Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.

TitlePrioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.
Publication TypeJournal Article
Year of Publication2018
AuthorsCallaway, DA, Campbell, IM, Stover, SR, Hernandez-Garcia, A, Jhangiani, SN, Punetha, J, Paine, IS, Posey, JE, Muzny, D, Lally, KP, Lupski, JR, Shaw, CA, Fernandes, CJ, Scott, DA
JournalJ Pediatr Genet
Volume7
Issue4
Pagination164-173
Date Published2018 Dec
ISSN2146-4596
Abstract

Wolf-Hirschhorn syndrome (WHS) is caused by partial deletion of the short arm of chromosome 4 and is characterized by dysmorphic facies, congenital heart defects, intellectual/developmental disability, and increased risk for congenital diaphragmatic hernia (CDH). In this report, we describe a stillborn girl with WHS and a large CDH. A literature review revealed 15 cases of WHS with CDH, which overlap a 2.3-Mb CDH critical region. We applied a machine-learning algorithm that integrates large-scale genomic knowledge to genes within the 4p16.3 CDH critical region and identified FGFRL1 , CTBP1 , NSD2 , FGFR3 , CPLX1 , MAEA , CTBP1-AS2 , and ZNF141 as genes whose haploinsufficiency may contribute to the development of CDH.

DOI10.1055/s-0038-1655755
Alternate JournalJ Pediatr Genet
PubMed ID30430034
PubMed Central IDPMC6234038