Genomics

Dataset Information

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EGAS00001000185-sc-20140326 - samples

ABSTRACT: This project aims to study at least 90 exomes from families with congenital heart disease. The samples have been selected in Leuven in collaboration with Koen Devriendt. Ethic approval has been sought for in Leuven, Belgium and a HDMMC agreement for submitting these samples is in place at the WTSI. The phenotype we wil primarily focus our analysis is severe Left Ventricular Outflow Tract Obstructions (LVOTO) and Atrioventricular Septal Defect (AVSD). The indexed Agilent whole exome pulldown libraries will be sequenced on 75bp PE HiSeq (Illumina).

PROVIDER: EGAD00001000796 | EGA |

REPOSITORIES: EGA

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Publications

Rare variants in NR2F2 cause congenital heart defects in humans.

Al Turki Saeed S   Manickaraj Ashok K AK   Mercer Catherine L CL   Gerety Sebastian S SS   Hitz Marc-Phillip MP   Lindsay Sarah S   D'Alessandro Lisa C A LC   Swaminathan G Jawahar GJ   Bentham Jamie J   Arndt Anne-Karin AK   Louw Jacoba J   Low Jacoba J   Breckpot Jeroen J   Gewillig Marc M   Gewillig Marc M   Thienpont Bernard B   Abdul-Khaliq Hashim H   Harnack Christine C   Hoff Kirstin K   Kramer Hans-Heiner HH   Schubert Stephan S   Siebert Reiner R   Toka Okan O   Cosgrove Catherine C   Watkins Hugh H   Lucassen Anneke M AM   O'Kelly Ita M IM   Salmon Anthony P AP   Bu'lock Frances A FA   Granados-Riveron Javier J   Setchfield Kerry K   Thornborough Chris C   Brook J David JD   Mulder Barbara B   Klaassen Sabine S   Bhattacharya Shoumo S   Devriendt Koen K   Fitzpatrick David F DF   Wilson David I DI   Mital Seema S   Hurles Matthew E ME  

American journal of human genetics 20140401 4

Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2, a very signifi  ...[more]

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