Article
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
American journal of human genetics - 6 Apr 2017
Jansen Sandra, Geuer Sinje, Pfundt Rolph, Brough Rachel, Ghongane Priyanka, Herkert Johanna C, Marco Elysa J, Willemsen Marjolein H, Kleefstra Tjitske, Hannibal Mark, Shieh Joseph T, Lynch Sally Ann, Flinter Frances, FitzPatrick David R, Gardham Alice, Bernhard Birgitta, Ragge Nicola, Newbury-Ecob Ruth, Bernier Raphael, Kvarnung Malin, Magnusson E A Helena, Wessels Marja W, van Slegtenhorst Marjon A, Monaghan Kristin G, de Vries Petra, Veltman Joris A, Lord Christopher J, Vissers Lisenka E L M, de Vries Bert B A
Abstract excerpt
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted mutations in PPM1D as a possible cause of ID. PPM1D is a type 2C phosphatase that functions as a...
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