Article
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
European journal of human genetics : EJHG - 1 Aug 2016
Lugtenberg Dorien, Reijnders Margot R F, Fenckova Michaela, Bijlsma Emilia K, Bernier Raphael, van Bon Bregje W M, Smeets Eric, Vulto-van Silfhout Anneke T, Bosch Danielle, Eichler Evan E, Mefford Heather C, Carvill Gemma L, Bongers Ernie M H F, Schuurs-Hoeijmakers Janneke Hm, Ruivenkamp Claudia A, Santen Gijs W E, van den Maagdenberg Arn M J M, Peeters-Scholte Cacha M P C D, Kuenen Sabine, Verstreken Patrik, Pfundt Rolph, Yntema Helger G, de Vries Petra F, Veltman Joris A, Hoischen Alexander, Gilissen Christian, de Vries Bert B A, Schenck Annette, Kleefstra Tjitske, Vissers Lisenka E L M
Abstract excerpt
Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine...
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