Investigation of H19/RsaI Polymorphism in Children With Low Birth Weight in Pernambuco, Brazil

Background: H19 is a strong candidate gene for influencing birth weight variation and is exclusively imprinted maternally. In an attempt to understand the relationship of this gene polymorphism with low birth weight children, we investigated association of H19/RsaI polymorphism with low birth weight and normal birth weight in children and their mothers. Objectives: The aim of our study was to establish the association between H19 gene polymorphism and LW in children born in Pernambuco, state of Brazil. Patients and Methods: It were selected 89 children, 40 low birth weight (LW) and 49 normal birth weight (NW) and 71 mothers (40 mothers of newborns NW and 31 mothers of newborns LW) attended at Dom Malan Hospital, Petrolina, Pernambuco - Brazil. Peripheral blood samples were collected from patients and genomic DNA was extracted and detected by electrophoresis agarose gel, stained by Blue Green Loading Dye. DNA PCR amplification was done using the primers H1 (sense) and H3 (antisense). PCR products were digested with RsaI and electrophoresed on agarose gel stained by ethidium bromide. Statistical analyses were performed using the program BioEstat version 5.0. Results: The RsaI polymorphism in the H19 gene showed that genotype frequencies did not differ statistically between low birth weight (AA = 12.5%, AB = 45%, BB = 42.5%) and control (AA = 8.6% AB = 36.73%, BB= 55.10% groups) and the allele frequencies were not significantly different (P = 0.2897). We also did not observe any association between maternal H19 allele polymorphism and low birth weight newborns (P =0.7799) or normal birth weight children (P = 0.8976). Conclusions: The small size of sample may be the explanation for these results; future studies with more patients are needed to confirm the effect of H19/RsaI polymorphism on birth weight of LW newborns.

Cayler Cardio-Facial Syndrome: An Uncommon Condition in Newborns

Introduction: Cayler cardio-facial syndrome is a rare syndrome associated with asymmetric crying faces with congenital heart disease. We report a newborn that was diagnosed as case of Cayler Cardio-facial syndrome based on clinical features and was confirmed with FISH analysis. Case Presentation: A term male baby, born to non-consanguineous couple through normal vaginal delivery was diagnosed to have asymmetric crying faces with deviation of angle of mouth to left side at the time of birth. The baby had normal faces while sleeping or silent. Mother was known case of hypothyroidism and was on treatment. Baby was diagnosed as case of Cayler Cardio-facial Syndrome and was investigated with echocardiogram, brain ultrasound, total body X-ray examination, X-ray of cervico-thoracic vertebral column and fundus examination. Echocardiogram showed muscular VSD, brain ultrasound was normal and fundus examination showed tortuous retinal vessels. Whole body X-ray and lateral X-ray of cervico-thoracic vertebral column were not suggestive of any skeletal abnormalities. The other associated malformation was right ear microtia. Baby FISH karyotype analysis showed deletion of 22q11.2 deletion. Baby was discharged and now on follow-up. Conclusions: Cayler syndrome is a rare syndrome which must be suspected if a baby has asymmetrical cry pattern and normal facies when baby sleeps. Patient must be evaluated with echocardiography to find out associated cardiac malformations. These infants should undergo FISH analysis for 22q11.2 deletion syndrome.