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Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.
Callaway, Danielle A; Campbell, Ian M; Stover, Samantha R; Hernandez-Garcia, Andres; Jhangiani, Shalini N; Punetha, Jaya; Paine, Ingrid S; Posey, Jennifer E; Muzny, Donna; Lally, Kevin P; Lupski, James R; Shaw, Chad A; Fernandes, Caraciolo J; Scott, Daryl A.
Affiliation
  • Callaway DA; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States.
  • Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.
  • Stover SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Punetha J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States.
  • Paine IS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Lally KP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States.
  • Shaw CA; Department of Pediatric Surgery, McGovern Medical School at UT Health, Houston, Texas, United States.
  • Fernandes CJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Scott DA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States.
J Pediatr Genet ; 7(4): 164-173, 2018 Dec.
Article in En | MEDLINE | ID: mdl-30430034
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.
Key words

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: J Pediatr Genet Year: 2018 Document type: Article Affiliation country: United States Country of publication: Germany

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: J Pediatr Genet Year: 2018 Document type: Article Affiliation country: United States Country of publication: Germany