Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

doi:10.1016/j.ajhg.2014.03.013

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Article

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

American journal of human genetics - 1 May 2014

Vulto-van Silfhout Anneke T, Rajamanickam Shivakumar, Jensik Philip J, Vergult Sarah, de Rocker Nina, Newhall Kathryn J, Raghavan Ramya, Reardon Sara N, Jarrett Kelsey, McIntyre Tara, Bulinski Joseph, Ownby Stacy L, Huggenvik Jodi I, McKnight G Stanley, Rose Gregory M, Cai Xiang, Willaert Andy, Zweier Christiane, Endele Sabine, de Ligt Joep, van Bon Bregje W M, Lugtenberg Dorien, de Vries Petra F, Veltman Joris A, van Bokhoven Hans, Brunner Han G, Rauch Anita, de Brouwer Arjan P M, Carvill Gemma L, Hoischen Alexander, Mefford Heather C, Eichler Evan E, Vissers Lisenka E L M, Menten Björn, Collard Michael W, de Vries Bert B A

Abstract excerpt

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...

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Identifiers

PMID: 24726472
DOI: 10.1016/j.ajhg.2014.03.013
PMCID: PMC4067565

Genes

DEAF1

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Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.PMID 24726472Read ↗

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