Article
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
Journal of medical genetics - 1 Nov 2015
DeSanto Cori, D'Aco Kristin, Araujo Gabriel C, Shannon Nora, Vernon Hilary, Rahrig April, Monaghan Kristin G, Niu Zhiyv, Vitazka Patrik, Dodd Jonathan, Tang Sha, Manwaring Linda, Martir-Negron Arelis, Schnur Rhonda E, Juusola Jane, Schroeder Audrey, Pan Vivian, Helbig Katherine L, Friedman Bethany, Shinawi Marwan
Abstract excerpt
BACKGROUND: Rare de novo mutations have been implicated as a significant cause of idiopathic intellectual disability. Large deletions encompassing 10p11.23 have been implicated in developmental delay, behavioural abnormalities and dysmorphic features, but the genotype-phenotype correlation was not delineated. Mutations in WAC have been recently reported in large screening cohorts of patients with intellectual...
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