%0 Case Reports
%T Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.
%A Callaway DA
%A Campbell IM
%A Stover SR
%A Hernandez-Garcia A
%A Jhangiani SN
%A Punetha J
%A Paine IS
%A Posey JE
%A Muzny D
%A Lally KP
%A Lupski JR
%A Shaw CA
%A Fernandes CJ
%A Scott DA
%J J Pediatr Genet
%V 7
%N 4
%D Dec 2018
%M 30430034
暂无%R 10.1055/s-0038-1655755
%X 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.