Comments on: "The role of the social environment in psychiatric research: Outstanding challenges and future directions by Dana March, James Kirkbride, Wim Veling"

On 17 March 2009, we hosted a live discussion of fresh new ideas in the epidemiology of schizophrenia. Discussion leaders Dana March of Columbia University, James Kirkbride of the University of Cambridge, and Wim Veling of Parnassia Psychiatric Institute delivered a wide-ranging discussion of social factors such as migration, ethnicity, and urbanicity, but also asked how this research could benefit from genetic insights. Finally, they discussed possible biological mechanisms that might transduce social factors into psychosis

Displaying and celebrating the "other": A study of the mission, scope, and roles of ethnic museums in Los Angeles

In the last thirty years, ethnic museums have mushroomed in American cities. Although this is certainly a national phenomenon, it has been particularly evident in Los Angeles. In this paper we examine the genesis and evolution of these emerging institutions. We survey the mission, scope, and role of ethnic museums in Los Angeles, and we contrast them with the stated mission and scope of “mainstream” museums in the city. We further present case studies of three Los Angeles ethnic museums. The museums vary considerably in the ways they perceive their role in the community, the city, and the nation and in the preservation and display of ethnic culture. At their best, ethnic museums serve to make new art and histories more accessible and visible and provide a forum in which to debate contemporary issues of politics and identity. The paper highlights some of the tensions faced by ethnic museums as they seek to define their audience and role(s) in multi-ethnic, twenty-first century Los Angeles.

Foreword for "Critical Literacy Practice: Applications of Critical Theory in Diverse Settings"

Given the impact of standardization and high-stakes testing on literacy education policy internationally, it is encouraging to read fresh accounts of critical literacy in practice being enacted in many different educational contexts. Critical Literacy Practice: Applications of Critical Theory in Diverse Settings delivers what its title promises, namely, serious scholarly accounts of educators working to practice critical literacy and address the complexity that it entails. Importantly, the contributors include both recognized and emerging researchers in critical literacy studies. Critical literacy needs input from culturally diverse and new scholars to address crucial and unfamiliar issues as well as perennial injustices relating to poverty, race, ethnicity, gender, sexuality, and location...

Dressing up Tinderella: Interrogating authenticity claims on the mobile dating app Tinder

Mobile dating applications (‘apps’) have increased in popularity over recent years, with Tinder among the first to break into the mainstream heterosexual market. Since mobile dating intensifies the need to confirm that potential dates are not misrepresenting themselves and are safe to meet in person, Tinder’s success indicates that it has allayed these concerns regarding the authenticity of its users. This article combines Giddens’ conceptualization of authenticity, as the ability to reference a coherent biographical narrative, with Callon’s sociology of translation to investigate Tinder’s framing of authenticity within mobile dating. Applying a walkthrough method that interrogates Tinder’s technological architecture, promotional materials, and related media, this hybrid theoretical framework is used to identify how Tinder configures an actor-network that establishes its app as the solution to users’ concerns, enrols individuals in using its features in authenticity claims, and popularizes Tinder’s framing across public discourse. This network of human and non-human actors frames authenticity as being established through one’s Facebook profile and adherence to normative standards relating to age, gender, ethnicity, and socioeconomic status. However, user discourses on other social media identify and challenge negative outcomes of this framing, with normativity fostering discrimination and Facebook verification failing to prevent abusive behavior. This case study of Tinder paves the way for future investigation into user responses to its framing. Further, it demonstrates the efficacy and broader applicability of this theoretical approach for identifying both human and technological influences on the construction of authenticity with digital media.

Globalisation

This book provides an engaging and accessible analysis of traditional issues associated with mass education. The book challenges preconceptions about social class, gender and ethnicity discrimination; highlights the interplay between technology, media, popular culture and schooling; and inspects the relevance of ethics and philosophy in the modern classroom. This new edition has been comprehensively updated to provide current information regarding literature, statistics and legal policies, and significantly expands on the previous edition's structure of derailing traditional myths about education as a point of discussion. It also features two new chapters on Big Data and Globalisation and what they mean for the Australian classroom. Written for students, practising teachers and academics alike, This book summarises the current educational landscape in Australia and looks at fundamental issues in society as they relate to education.

Association of the microRNA-Single Nucleotide Polymorphism rs2910164 in miR146a with sporadic breast cancer susceptibility: A case control study

Background Breast cancer (BC) is primarily considered a genetic disorder with a complex interplay of factors including age, gender, ethnicity, family history, personal history and lifestyle with associated hormonal and non-hormonal risk factors. The SNP rs2910164 in miR146a (a G to C polymorphism) was previously associated with increased risk of BC in cases with at least a single copy of the C allele in breast cancer, though results in other cancers and populations have shown significant variation. Methods In this study, we examined this SNP in an Australian sporadic breast cancer population of 160 cases and matched controls, with a replicate population of 403 breast cancer cases using High Resolution Melting. Results Our analysis indicated that the rs2910164 polymorphism is associated with breast cancer risk in both primary and replicate populations (p = 0.03 and 0.0013, respectively). In contrast to the results of familial breast cancer studies, however, we found that the presence of the G allele of rs2910164 is associated with increased cancer risk, with an OR of 1.77 (95% CI 1.40–2.23). Conclusions The microRNA miR146a has a potential role in the development of breast cancer and the effects of its SNPs require further inquiry to determine the nature of their influence on breast tissue and cancer.

Clinical relevance of MTHFR, eNOS, ACE, and ApoE gene polymorphisms and serum vitamin profile among Malay patients with ischemic stroke

Background The purpose of this study was threefold. First, it was to determine the relationship between serum vitamin profiles and ischemic stroke. The second purpose was to investigate the association of methylenetetrahydrofolate reductase (MTHFR), endothelial nitric oxide synthase (eNOS), angiotensin converting enzyme (ACE), and apolipoprotein-E (ApoE) gene polymorphisms with ischemic stroke and further correlate with serum vitamin profiles among ischemic stroke patients. The third purpose of the study was to highlight the interaction of MTHFR and eNOS haplotypes with serum vitamin profiles and ischemic stroke risks. Methods Polymorphisms of these genes were analyzed in age-, sex-, and ethnicity-matched case–controls (n = 594); serum vitamin profiles were determined using immunoassays. Results The MTHFR 677C>T, 1298A>C, eNOS intron 4a/b, and ApoE polymorphisms were significantly associated with the increased risk of ischemic stroke. Elevated serum homocysteine and vitamin B12 levels were associated with MTHFR 677C>T and eNOS intron 4a/b polymorphisms. The ApoE and eNOS −786T>C polymorphisms were associated with increased serum vitamin B12 levels. However, none of the polymorphisms influenced serum folate levels except for the MTHFR 1298A>C. Different patterns of MTHFR and eNOS haplotypes tend to affect serum vitamin profiles to different degrees, which contribute to either different susceptibility risk or protective effect on ischemic stroke. Overall, increased levels of serum homocysteine and vitamin B12 levels were associated with higher risk of ischemic stroke in the investigated population. Conclusions The present study suggests that the genotypes and haplotypes of MTHFR 677C>T and eNOS intron 4a/b polymorphisms are potential serum biomarkers in the pathophysiological processes of ischemic stroke, by modulating homocysteine and vitamin B12 levels.

Tytöt, pojat ja sukupuolinen häirintä

In this research I ask what is interpreted as sex-based harassment by 15-16-year old girls and boys. By sex-based harassment I refer to one-sided, unwanted attention that is based on gender and that makes the target feel embarrassed, frightened, hurt or angry. My focus is not on the most overt cases of harassment but rather on everyday encounters. While young people differentiate between harassing and non-harassing attention, at the same time they define, assign value to and construct differences and power relations on the basis of gender, age and ethnicity, for example. My main data consists of essays (N 104, 54 girls, 54 boys) and thematic interviews (N 14; 20 girls, 3 boys) of ninth graders of a secondary school in Helsinki. In the essays and interviews, students construe the border between pleasant and unpleasant, tolerable and intolerable attention as clear in principle, but, they suggest that in practice this border is ambivalent, negotiable and contextual. The interpretations of incidents are justified by referring to features of the target, the scene or the perpetrator. Targets of harassment are most often construed as being girls who are characterized as thin-skinned, but at the same time they are expected to be understanding toward any sex-based attention they may get, particularly when it is not physical. On the other hand, girls are regarded as equal and even active participants in incidents of harassment. Such statements include considerations of how girls either reject or invite particular kinds of attention by their actions and outward appearance. Forms of harassment, ways of understanding it as well as overcoming it vary according to spatial context. By situating incidents in different spaces and places, young people contrast their experiences with ordinary and predictable non-harassment that takes place e.g. in discos and unusual and unexpected harassment that takes place e.g. in the city streets in the daytime. The behaviour of boys harassing a girls is naturalized by appealing to young masculinity and the childishness but also strong sexual drive which is seen as characteristic of teenage boys. On the other hand, sex-based harassment is racialized and pathologized in ways that separate the phenomenon from young, Finnish, normal masculinity. Both the material experiences of the young people and the definitions of the parties involved in harassing incidents are gendered. Girls encounter and deal with sexualized commenting and unwanted approaches much more often and in a more intensive way than boys. Furthermore, there is a vast cultural repertoire of acceptable accounts that can be mobilised in order to excuse male harassers, to critically evaluate the appearance or action of the female targets and to divide the responsibility between the female target and the male perpetrator.

The Rocky Road of Social Sustainability : The Impact of Integrated Biodiversity Conservation and Development on the Local Realities in Ranomafana National Park, Madagascar

The objective of this study is to examine the social impacts of the integrated conservation and development project (ICDP) aimed at biodiversity conservation and local socio-economic development in the Ranomafana National Park (RNP), Madagascar. Furthermore, the study explores social sustainability and justice of the ICDP in Ranomafana. This ethnographically informed impact study uses of various field methods. The research material used consists of observation, interviews (key-person and focus group), school children's writings, official statistics and project documents. Fieldwork was conducted in three phases in 2001, 2002 and 2004 in twelve villages around the park, as well as in neighbouring areas of Ranomafana. However, four of those twelve villages were chosen for closer study. This study consists of five independent articles and a concluding chapter. Social impacts were studied through reproductive health indicators as well as a life security approach. Equity and distribution of benefits and drawbacks of ICDP were analysed and the actors related to the conservation in Ranomafana were identified. The children and adolescents' environmental views were also examined. The reproductive health indicators studied showed a poor state of reproductive health in the park area. Moreover, the existing social capital in the villages seemed to be fragmented due to economic difficulties that were partly caused by the conservation regulations. The ICDP in Ranomafana did not pay attention to the heterogeneity of the affected communities even though the local beneficiaries of the ICDP varied according to their ethnicity, living place, wealth, social position and gender. In addition, various conservation actors (local people in various groups, local authorities, tourist business owners, conservation NGOs and scientists) contest their interests over the forest, conservation and its related activities. This study corroborates the same type of evidence and conclusions discussed in other similar cases elsewhere: so called social conservation programmes still cannot meet the needs of the people living near the protected areas; on the contrary, they even have a reverse impact on the people's lives. A fundamental misunderstood assumption in the conservation process in Ranomafana was to consider the local people as a problem for biodiversity conservation. Major reasons for the failure of the ICDP in Ranomafana include a lack of local institutions that would have been able to communicate as equals with the conservation NGOs as well as to transfer the tradition of the authoritarian governance in conservation management together with the over-appreciation of scientific biodiversity, and lack of will to understand the local people's rights to use the forest for their livelihoods.

Tyttöjen kesken : Monikulttuurisuus ja sukupuolten tasa-arvo nuorisotyössä.

Among Girls Youth Work, Multiculturalism and Gender Equality Finland s increasingly multicultural society concerns younger generations in a very particular manner. Starting already in pre-school kindergartens, children from different cultural backgrounds share their everyday existence. The focus of this study is Finland s increasingly multicultural society that has challenged youth work professionals in particular and made them rethink questions related to content, basic values and goals of youth work. These reconsiderations include the following essential questions: which of these pedagogic principles are defined as Finnish, and under what kinds of circumstances would the youth workers be ready to negotiate about them. These questions, which are related to multiculturalism, are then linked to the girls position, status and gender equality. The research examines how gender equality is articulated in relation to multiculturalism and vice versa, in what contexts youth work-related questions are negoatiated in, and how these negotiations then relate to gender issues. The present study combines theoretical concepts and debates from both post-colonial and youth research, and has benefited greatly from previous research which has examined the everyday lives of young people with multicultural backgrounds and conceptualised the different meanings of age, ethnicity, culture and gender. Neither multiculturalism nor gender equality is, however, taken as a given concept in this study; rather the research focuses on how youth workers understand and define these concepts and how they are used. The emphasis has been on monitoring the varying consequences of different understandings and definitions in terms of everyday work and practices. The goal of this study has been to find typical ways of conceptualising multiculturalism, gender equality and the role of girls in the context of youth work. The focus of the research is not just the youth workers different views but also the notions of the girls themselves. These are then further analysed by examining the ways the girls negotiate their agency. Examples of how the girls agency is defined and the different forms of agency that are offered to the girls within the context of leisure time activities and youth work have been sought. The kind of agency the girls then assume is also examined. The data in this research is comprised of interviews with young people with multicultural backgrounds (n=39), youth workers (n=42) and of ethnographic fieldwork (2003 2005). The fieldwork concentrated on following different types of youth work activities that were targeted at girls with migrant backgrounds. These were organized both by selected municipalities and NGOs. The research shows that various questions related to multicultural issues have enhanced the visibility of gender equality in the field of youth work. The identification of gender-based inequality is especially closely linked to the position of girls from migrant backgrounds. These girls are a source of particular worry and the aim of the many activity groups for migrant girls is to educate them so that they can become equal Finnish citizens . The youth work itself is seen as gender-neutral and equality based. Equality in this context is defined as a purely quantitative concept, and the solution to any possible inequalities is thus the exact same treatment for everyone . The girls themselves seem mainly confused by the role that is offered to them. They would need a voice and the possibility to have an impact on the planning of youth work activities. They want to have their views heard. The role of the victim assigned to them is very confining and makes it difficult to act. At the same time the research shows how gender-sensitive youth work is seen to mean youth work with girls. Gender-sensitive work with boys is not really done or is done very little, even if many of the interviewees are of the opinion that the true materialization of gender equality would require boys to be taken into account too. The principle of gender equality should be shared by the entire youth work profession. Keywords Youth work, equality, multiculturalism, gender sensitivity, agency, girls, young people, sexuality

Toisen kielen oppijan identiteetti ja arkielämän vuorovaikutustilanteet : Tapaustutkimus viiden maahanmuuttajanaisen suomen kielen oppimisesta

Tutkielma on haastatteluaineistoon perustuva tapaustutkimus, jossa tarkastellaan viittä pääkaupunkiseudulla elävää maahanmuuttajanaista suomen kielen oppijoina ja käyttäjinä. Työssä paneudutaan toisaalta identiteetin ja toisen kielen oppimisen suhteeseen ja toisaalta siihen, millaisissa arjen vuorovaikutustilanteissa toisen kielen oppija pääsee puhumista harjoittelemaan. Tutkimuksen teoreettisena kehyksenä ovat sosiokulttuurinen kielentutkimus ja jälkistrukturalistinen identiteettikäsitys. Työn innoittajana ja esikuvana on kanadalaisen Bonny Nortonin tapaustutkimus Identity and Language Learning: Gender, Ethnicity and Educational Change (2000), jonka keskeisistä käsitteistä on omaksuttu muun muassa kielenoppijan panostus. Aineisto on kerätty puolentoista vuoden aikana ja koostuu 14 nauhoitetusta ja litteroidusta haastattelusta. Analyysi jakautuu kahteen osaan. Ensimmäisessä osassa osoitetaan yksilön sosiaalisen identiteetin yhteys toisen kielen oppimiseen kolmen ulottuvuuden kautta, joita ovat Suomeen muuton syyt ja tulevaisuudensuunnitelmat, kielenoppijuus ja monikielisyys sekä sukupuoli ja ikä. Olennainen päätelmä on, ettei yksilön toisen kielen oppimismenestystä voi erottaa identiteetistä. Toisessa osassa analysoidaan arkielämän vuorovaikutustilanteita: ensinnäkin sitä, millaisia mahdollisuuksia toisen kielen oppijalla on päästä puhumaan kohdekieltä ja toiseksi sitä, millaisiksi nuo tilanteet muotoutuvat. Keskeisin tutkimustulos on, että toisen kielen oppijalle tarjoutuu liian vähän vapaamuotoisia suomen puhumisen mahdollisuuksia. Vuorovaikutustilanteita hallitsevat usein epätasapainoiset valtasuhteet, jotka rajoittavat kielenoppijaa, toisinaan jopa vaientavat tämän. Toisen kielen oppimisen ja identiteetin suhdetta on Suomessa tutkittu varsin vähän. Niin ikään oppijan vaientaminen vuorovaikutustilanteissa on jäänyt huomiotta. Tutkielma avaa ajankohtaista aihepiiriä ja mielenkiintoisia jatkotutkimusnäkymiä, joista yksi olisi vuorovaikutustilanteiden etnografinen havainnointi.

Domestic labour relations in India : Vulnerability and gendered life courses in Jaipur

This study explores labour relations between domestic workers and employers in India. It is based on interviews with both employers and workers, and ethnographically oriented field work in Jaipur, carried out in 2004-2007. Combining development studies with gender studies, labour studies, and childhood studies, it asks how labour relations between domestic workers and employers are formed in Jaipur, and how female domestic workers trajectories are created. Focusing on female part-time maids and live-in work arrangements, the study analyses children s work in the context of overall work force, not in isolation from it. Drawing on feminist Marxism, domestic labour relations are seen as an arena of struggle. The study takes an empirical approach, showing class through empiria and shows how paid domestic work is structured and stratified through intersecting hierarchies of class, caste, gender, age, ethnicity and religion. The importance of class in domestic labour relations is reiterated, but that of caste, so often downplayed by employers, is also emphasized. Domestic workers are crucial to the functioning of middle and upper middle class households, but their function is not just utilitarian. Through them working women and housewives are able to maintain purity and reproduce class disctinctions, both between poor and middle classes and lower and upper middle classes. Despite commodification of work relations, traditional elements of service relationships have been retained, particularly through maternalist practices such as gift giving, creating a peculiar blend of traditional and market practices. Whilst employers of part-time workers purchase services in a segmented market from a range of workers for specific, traditional live-in workers are also hired to serve employers round the clock. Employers and workers grudgingly acknowledged their dependence on one another, employers seeking various strategies to manage fear of servant crime, such as the hiring of children or not employing live-in workers in dual-earning households. Paid domestic work carries a heavy stigma and provide no entry to other jobs. It is transmitted from mothers to daughters and working girls were often the main income providers in their families. The diversity of working conditions is analysed through a continuum of vulnerability, generic live-in workers, particularly children and unmarried young women with no close family in Jaipur, being the most vulnerable and experienced part-time workers the least vulnerable. Whilst terms of employment are negotiated informally and individually, some informal standards regarding salary and days off existed for maids. However, employers maintain that workings conditions are a matter of individual, moral choice. Their reluctance to view their role as that of employers and the workers as their employees is one of the main stumbling blocks in the way of improved working conditions. Key words: paid domestic work, India, children s work, class, caste, gender, life course

Ale jaskkot eatnigiella : Alkuperäiskansaliikkeen ja saamen kielen merkitys saamelaisten identiteetille

This study examines the Sámi people and the construction of the Sámi identity and the role of language in the cross-border Sámi movement within the context of the international indigenous movement and discourse between 1962 and 2008. The Sámi movement began as a reaction to state assimilation policies. This led to the birth of indigenous processes strengthening the Sámi cultures and languages. Activities across borders and the ethnopolitical processes in each of the Nordic countries in question also formed the basis of the internationalization of the Sámi people. The discourse on indigenous peoples has grown into a question of human rights, which is examined in different national and international contexts. The study is based on ethnographic data that has been collected via interviews, questionnaires and participant observation with the researched people in different meetings and events. Archive and newsprint material are also used. The approach of the study is auto-ethnographic. The post-colonial theories used in the study strive to destabilize power relations and the distinctions of otherness produced by colonialism, and to reclaim both one's own culture and language in the context of the indigenous movement. A standard model for this type of approach was created by Edward W. Said in his 1978 work Orientalism. The central concepts of the analysis are decolonization, otherness, ethnicity and identity. The dissertation consists of four published articles and an introduction. The subject matter is analyzed on three levels: global, European and Nordic. On the global level, the results demonstrate that the indigenous movement has constructed a new understanding of indigenousness with new rights. International treaties have facilitated the unification of new concepts and rights, such as the right to self-determination and language, also helping in transforming them into rights of the Sámi people on a national level. On the Nordic level, aligning the Sámi culture with indigenous discourse became significant for the process of developing the Sámi identity in the Sámi movement. In this process, the Sámi movement made use of Sámi languages in order to mobilize groups of people and to construct relatedness between different Sámi groups. The realization that one s own language is significant to one's culture has resulted in recreating the vitality, visibility and the legitimation of language in society more generally. The migration of the Sámi people from their traditional territories to increasingly multi-ethnic urban areas alters one's relationship to one's own community as the relationship to cultural traditions changes. Among the urban Sámi, who form a group of ‘new Sáminess’, linguistic discrimination and assimilation continue because of the lack of legislative and other effective language policy measures to promote the learning and use of the Sámi language.

Löydöstä muinaispuvuksi : arkeologisten tekstiilien ennallistaminen

From a find to an ancient costume - reconstruction of archaeological textiles Costume tells who we are. It warms and protects us, but also tells about our identity: gender, age, family, social group, work, religion and ethnicity. Textile fabrication, use and trade have been an important part of human civilization for more than 10 000 years. There are plenty of archaeological textile findings, but they are small, fragmentary and their interpretation requires special skills. Finnish textile findings from the younger Iron Age have already been studied for more than hundred years. They have also been used as a base for several reconstructions called muinaispuku , ancient costume. Thesis surveys the ancient costume reconstruction done in Finland and discusses the objectives of the reconstruction projects. The earlier reconstruction projects are seen as a part of the national project of constructing a glorious past for Finnish nationality, and the part women took in this project. Many earlier reconstructions are designed to be festive costumes for wealthy ladies. In the 1980s and 1990s many new ancient costume reconstructions were made, differing from their predecessors at the pattern of the skirt. They were also done following the principles of making a scientific reconstruction more closely. At the same time historical re-enactment and living history as a hobby have raised in popularity, and the use of ancient costumes is widening from festive occasions to re-enactment purposes. A hypothesis of the textile craft methods used in younger Iron Age Finland is introduced. Archaeological findings from Finland and neighboring countries, ethnological knowledge of textile crafts and experimental archaeology have been used as a basis for this proposition. The yarn was spinned with a spindle, the fabrics woven on a warp-weighted loom and dyed with natural colors. Bronze spiral applications and complicated tablet-woven bands have possibly been done by specialist craftswomen or -men. The knowledge of the techniques and results of experimenting and experimental archaeology gives a possibility to review the success of existing ancient costume reconstructions as scientific reconstructions. Only one costume reconstruction project, the Kaarina costume fabricated in Kurala Kylämäki museum, has been done using as authentic methods as possible. The use of ancient craft methods is time-consuming and expensive. This fact can be seen as one research result itself for it demonstrates how valuable the ancient textiles have been also in their time of use. In the costume reconstruction work, the skill of a craftswoman and her knowledge of ancient working methods is strongly underlined. Textile research is seen as a process, where examination of original textiles and reconstruction experiments discuss with each other. Reconstruction projects can give a lot both to the research of Finnish younger Iron Age and the popularization of archaeological knowledge. The reconstruction is never finished, and also the earlier reconstructions should be reviewed in the light of new findings.

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

Background: Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is caused by compound heterozygous mutations in the CTC1 gene. Case presentation: We encountered a case of an eight-year old boy from an Indian family with manifestations of Coats plus syndrome along with an unusual occurrence of dextrocardia and situs inversus. Targeted resequencing of the CTC1 gene as well as whole exome sequencing (WES) were conducted in this family to identify the causal variations. The identified candidate variations were screened in ethnicity matched healthy controls. The effect of CTC1 variation on telomere length was assessed using Southern blot. A novel homozygous missense mutation c.1451A > C (p.H484P) in exon 9 of the CTC1 gene and a rare 3'UTR known dbSNP variation (c.*556 T > C) in HES7 were identified as the plausible candidates associated with this complex phenotype of Coats plus and dextrocardia. This CTC1 variation was absent in the controls and we also observed a reduced telomere length in the affected individual's DNA, suggesting its likely pathogenic nature. The reported p.H484P mutation is located in the N-terminal 700 amino acid regionthat is important for the binding of CTC1 to ssDNA through its two OB domains. WES data also showed a rare homozygous missense variation in the TEK gene in the affected individual. Both HES7 and TEK are targets of the Notch signaling pathway. Conclusions: This is the first report of a genetically confirmed case of Coats plus syndrome from India. By means of WES, the genetic variations in this family with unique and rare complex phenotype could be traced effectively. We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia. The present finding will be useful for genetic diagnosis and carrier detection in the family and for other patients with similar disease manifestations.