Article
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
European journal of medical genetics - 1 Apr 2017
Hertecant Jozef, Komara Makanko, Nagi Aslam, Al-Zaabi Olfat, Fathallah Waseem, Cui Hong, Yang Yaping, Eng Christine M, Al Sorkhy Mohammad, Ghattas Mohammad A, Al-Gazali Lihadh, Ali Bassam R
Abstract excerpt
Pathogenic variants in theP21 protein (Cdc42/Rac)-activated kinase 3gene (PAK3) lead to a rare non syndromic X-linked intellectual disability. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then mediates a variety of cellular processes. So far, mutations in PAK3 gene have been reported in few families affected with intellectual disability...
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