Ontology highlight
ABSTRACT:
SUBMITTER: Vulto-van Silfhout AT
PROVIDER: S-EPMC4067565 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Vulto-van Silfhout Anneke T AT Rajamanickam Shivakumar S Jensik Philip J PJ Vergult Sarah S de Rocker Nina N Newhall Kathryn J KJ Raghavan Ramya R Reardon Sara N SN Jarrett Kelsey K McIntyre Tara T Bulinski Joseph J Ownby Stacy L SL Huggenvik Jodi I JI McKnight G Stanley GS Rose Gregory M GM Cai Xiang X Willaert Andy A Zweier Christiane C Endele Sabine S de Ligt Joep J van Bon Bregje W M BW Lugtenberg Dorien D de Vries Petra F PF Veltman Joris A JA van Bokhoven Hans H Brunner Han G HG Rauch Anita A de Brouwer Arjan P M AP Carvill Gemma L GL Hoischen Alexander A Mefford Heather C HC Eichler Evan E EE Vissers Lisenka E L M LE Menten Björn B Collard Michael W MW de Vries Bert B A BB
American journal of human genetics 20140410 5
Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had ...[more]