Genomics

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Data Access Committee for Deciphering Developmental Disorders (DDD) Project

ABSTRACT: Data Access Committee EGAC00001000282

PROVIDER: EGAC00001000282 | EGA |

REPOSITORIES: EGA

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Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of serine/threonine (Ser/Thr) protein phosphatase 2A (PP2A) were identified in 16 individuals with mild to severe ID, long-lasting hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and downslanting palpebral fissures. PP2A comprises catalytic (C), scaffolding (A), and regulatory (B) subunits that determine subcellular  ...[more]

PMID: 26168268

Publication: 1/2

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