| Title |
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia
|
|---|---|
| Published in |
Human Genetics, November 2012
|
| DOI | 10.1007/s00439-012-1249-0 |
| Pubmed ID | |
| Authors |
Lan Yu, Julia Wynn, Yee Him Cheung, Yufeng Shen, George B. Mychaliska, Timothy M. Crombleholme, Kenneth S. Azarow, Foong Yen Lim, Dai H. Chung, Douglas Potoka, Brad W. Warner, Brian Bucher, Charles Stolar, Gudrun Aspelund, Marc S. Arkovitz, Wendy K. Chung |
| Abstract |
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. |
Mendeley readers
The data shown below were compiled from readership statistics for 66 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 2% |
| Belgium | 1 | 2% |
| Canada | 1 | 2% |
| Unknown | 63 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 19 | 29% |
| Student > Ph. D. Student | 10 | 15% |
| Student > Bachelor | 7 | 11% |
| Student > Doctoral Student | 7 | 11% |
| Student > Postgraduate | 5 | 8% |
| Other | 9 | 14% |
| Unknown | 9 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 21 | 32% |
| Agricultural and Biological Sciences | 18 | 27% |
| Biochemistry, Genetics and Molecular Biology | 11 | 17% |
| Computer Science | 2 | 3% |
| Materials Science | 1 | 2% |
| Other | 1 | 2% |
| Unknown | 12 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 December 2018.
All research outputs
#7,454,427
of 22,789,566 outputs
Outputs from Human Genetics
#933
of 2,953 outputs
Outputs of similar age
#58,901
of 182,331 outputs
Outputs of similar age from Human Genetics
#11
of 16 outputs
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