NDLI: Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Leyva-Vega, Melissa Gerfen, Jennifer Thiel, Brian D. Jurkiewicz, Dorota Rand, Elizabeth B. Pawlowska, Joanna Kaminska, Diana Russo, Pierre Gai, Xiaowu Krantz, Ian D. Kamath, Binita M. Hakonarson, Hakon Haber, Barbara A. Spinner, Nancy B.
Description	Country affiliation: United States Author Affiliation: Leyva-Vega M ( Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.)
Abstract	Biliary atresia (BA) is a progressive, idiopathic obliteration of the extrahepatic biliary system occurring exclusively in the neonatal period. It is the most common disease leading to liver transplantation in children. The etiology of BA is unknown, although infectious, immune and genetic causes have been suggested. Although the recurrence of BA in families is not common, there are more than 30 multiplex families reported and an underlying genetic susceptibility has been hypothesized. We screened a cohort of 35 BA patients for genomic alterations that might confer susceptibility to BA. DNA was genotyped on the Illumina Human Hap 550 Beadchip platform, which analyzes over 550,000 single nucleotide polymorphisms (SNPs) for genomic deletions and duplications. Areas of increased and decreased copy number were compared to those found in control populations. To identify regions that could serve as susceptibility factors for BA, we searched for regions that were found in BA patients, but not in controls. We identified two unrelated BA patients with overlapping heterozygous deletions of 2q37.3. Patient 1 had a 1.76 Mb (280 SNP), heterozygous deletion containing 30 genes. Patient 2 had a 5.87 Mb (1,346 SNP) heterozygous deletion containing 55 genes. The overlapping 1.76 Mb deletion on chromosome 2q37.3 from 240,936,900 to 242,692,820 constitutes the critical region and the genes within this region could be candidates for susceptibility to BA.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.33332
Journal	American Journal of Medical Genetics Part A
Issue Number	4
Volume Number	152A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Biliary Atresia Genetics Chromosome Aberrations Chromosomes, Human, Pair 2 Genetic Predisposition To Disease Genome, Human Adolescent Child, Preschool Chromosome Deletion Heterozygote In Situ Hybridization, Fluorescence Infant Infant, Newborn Polymorphism, Genetic Pregnancy Research Support, N.i.h., Extramural
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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