title: Genetic causes of congenital diaphragmatic hernia.
abstract: Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics.
authors.affiliation: Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Wynn
authors.affiliation: Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
authors.forename: Lan
authors.initials: L
authors.lastname: Yu
authors.affiliation: Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: wkc15@columbia.edu.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D002869:Chromosome Aberrations; D056915:DNA Copy Number Variations; D065630:Hernias, Diaphragmatic, Congenital / Q000235:genetics*; D006801:Humans; D009154:Mutation
keywords: Congenital diaphragmatic hernia; Copy number variants; Gene; Genomics; Syndromes