Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

We report on the molecular characterization of a microdeletion of approximately 2.5 Mb at 2p11.2 in a female baby with left congenital aural atresia, microtia, and ipsilateral internal carotid artery agenesis. The deletion was characterized by fluorescence in situ hybridization, array comparative genomic hybridization, and whole genome re-sequencing. Among the genes present in the deleted region, we focused our attention on the FOXI3 gene. Foxi3 is a member of the Foxi class of Forkhead transcription factors. In mouse, chicken and zebrafish Foxi3 homologues are expressed in the ectoderm and endoderm giving rise to elements of the jaw as well as external, middle and inner ear. Homozygous Foxi3-/- mice have recently been generated and show a complete absence of the inner, middle, and external ears as well as severe defects in the jaw and palate. Recently, a 7-bp duplication within exon 1 of FOXI3 that produces a frameshift and a premature stop codon was found in hairless dogs. Mild malformations of the outer auditory canal (closed ear canal) and ear lobe have also been noted in a fraction of FOXI3 heterozygote Peruvian hairless dogs. Based on the phenotypes of Foxi3 mutant animals, we propose that FOXI3 may be responsible for the phenotypic features of our patient. Further characterization of the genomic region and the analysis of similar patients may help to demonstrate this point. © 2015 Wiley Periodicals, Inc.

Die Unfähigkeit zu schreiben: Eine Verarbeitungsgeschichte des Nationalsozialismus anhand der Briefe von Maria Gleit an Ernst Kreuder

Mit dem 8. Mai 1945 ist das Exil der aus dem nationalsozialistischen Deutschland und Österreich Geflohenen und Vertriebenen nicht beendet. Aber Versuche, Kontakt aufzunehmen und an alte Beziehungen anzuknüpfen, setzen ein, um Lebensumstände, Positionen, Stimmungen und aktuelle Entwicklungen zu klären. In den Beiträgen des Sammelbandes geht es um Briefe von Frauen unterschiedlicher sozialer Herkunft und Lage, politischer Überzeugung und beruflicher Ausbildung und Perspektive: Ella Bergmann- Michel, Ilse Bing, Erna Blencke, Erna Döblin, Maria Gleit, Gabriele Kätzler, Hildegard Kramer, Vera Lachmann, Luise von Leyden, Johanna Marum, Lili Pollatz, Anna Siemsen, Minna Specht, Hilde Spiel, Grete Weil und Alma S. Wittlin schreiben über traumatische Erfahrungen, über die NS-Verbrechen, die Entfremdung und auch über ihre Akkulturation im Exilland sowie über ihre Pläne und die Vorbereitung einer möglichen Rückkehr, sofern diese nicht kategorisch abgelehnt wird, und über ihre Hoffnungen und Enttäuschungen nach der Remigration.

A mutation in hairless dogs implicates FOXI3 in ectodermal development

Mexican and Peruvian hairless dogs and Chinese crested dogs are characterized by missing hair and teeth, a phenotype termed canine ectodermal dysplasia (CED). CED is inherited as a monogenic autosomal semidominant trait. With genomewide association analysis we mapped the CED mutation to a 102-kilo-base pair interval on chromosome 17. The associated interval contains a previously uncharacterized member of the forkhead box transcription factor family (FOXI3), which is specifically expressed in developing hair and teeth. Mutation analysis revealed a frameshift mutation within the FOXI3 coding sequence in hairless dogs. Thus, we have identified FOXI3 as a regulator of ectodermal development.

How Teresa and Maria Margaretha migrated to Nordstrand: Translation of Relics and Transformation of a German Island into a Catholic Dutch enclave in the 17th century

When on 26 May 1662 the founding first stone was laid for a new church on the island Nordstrand at the coast of Schleswig, relics of Teresa of Avila (1515-1582) and of the Dutch Carmelite abbess Maria Margaretha ab Angelis (1605-1658) were inserted. This church was built for Dutch dyke builders who were called to reconstruct the island after its destruction by flood in 1634; coming from a Catholic background and from the Dutch Republic which was at war with Spain at that time, the dyke builders and their families were guaranteed religious freedom in the Lutheran duchy of Holstein. In this paper, the reasons for the choice for the Spanish mystic Teresa of Avila and for the Dutch Carmelite abbess Maria Margaretha are discussed. The latter patroness was never beatified but had died in the smell of holiness; after her death several miracles were ascribed to her. It is understandable that migrants brought relics of their appreciated holy persons who would remind them of their homeland. The paper will first shortly introduce the two patronesses of the church. In the second part, the reasons for this choice will be discussed. Behind this translation of relics not only spiritual reasons played a role. The function of the translation of the saints was first to keep up geographical and political connections with the old country (both Spain and the Netherlands), secondly to perpetuate personal-familial relationships (esp. with Maria Margaretha), thirdly to strengthen the confessional identity in a non-Catholic environment. Fourthly the transfer brought a certain model of Christian life and reform to the new place of living, which in the second part of the 17th century became marked as “Jansenist”. The paper shows the transformation of the island into an enclave of Dutch Catholic culture.