Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is characterized by incomplete formation of the diaphragm occurring as either an isolated defect or in association with other anomalies. Genetic factors including aneuploidies and copy number variants are important in the pathogenesis of many cases of CDH, but f...

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Vydáno v:Human genetics Ročník 132; číslo 3; s. 285 - 292
Hlavní autoři: Yu, Lan, Wynn, Julia, Cheung, Yee Him, Shen, Yufeng, Mychaliska, George B., Crombleholme, Timothy M., Azarow, Kenneth S., Lim, Foong Yen, Chung, Dai H., Potoka, Douglas, Warner, Brad W., Bucher, Brian, Stolar, Charles, Aspelund, Gudrun, Arkovitz, Marc S., Chung, Wendy K.
Médium: Journal Article
Jazyk:angličtina
Vydáno: Berlin/Heidelberg Springer-Verlag 01.03.2013
Springer
Springer Nature B.V
Témata:
Abdomen
Aneuploidy
Biomedical and Life Sciences
Biomedicine
Chest
copy number
Data processing
Diaphragm
Diaphragm (Anatomy)
DNA Copy Number Variations - genetics
Exome - genetics
GATA4 Transcription Factor - genetics
Gene Function
Genetic aspects
Genetic disorders
Genetic factors
Genetic Variation
Genome-Wide Association Study
Genomes
Genotype
Hernia
Hernia, Diaphragmatic - genetics
Hernias
Hernias, Diaphragmatic, Congenital
Heterozygote
Human Genetics
Humans
Infant, Newborn
Magnetic resonance imaging
Male
Medicine
Metabolic Diseases
Molecular Medicine
Mutation, Missense
Original Investigation
Pathogenesis
Pediatrics
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Surgery
New York
United States > US
Congenital Diaphragmatic Hernia
Human Gene Mutation Database
Gene Prioritization
Whole Exome Sequencing
ISSN:0340-6717, 1432-1203, 1432-1203
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Shrnutí:Congenital diaphragmatic hernia (CDH) is characterized by incomplete formation of the diaphragm occurring as either an isolated defect or in association with other anomalies. Genetic factors including aneuploidies and copy number variants are important in the pathogenesis of many cases of CDH, but few single genes have been definitively implicated in human CDH. In this study, we used whole exome sequencing (WES) to identify a paternally inherited novel missense GATA4 variant (c.754C>T; p.R252W) in a familial case of CDH with incomplete penetrance. Phenotypic characterization of the family included magnetic resonance imaging of the chest and abdomen demonstrating asymptomatic defects in the diaphragm in the two “unaffected” missense variant carriers. Screening 96 additional CDH patients identified a de novo heterozygous GATA4 variant (c.848G>A; p.R283H) in a non-isolated CDH patient. In summary, GATA4 is implicated in both familial and sporadic CDH, and our data suggests that WES may be a powerful tool to discover rare variants for CDH.
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ISSN:0340-6717
1432-1203
1432-1203
DOI:10.1007/s00439-012-1249-0