Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

We report th e de novo PAK1 mutations c.392A>G (p.Tyr131Cys) and  c.1286A>G (p.Tyr429Cys) in two unrelated subjects with developmental delay, secondary macrocephaly, seizures, and ataxic gait.

Source: The American Journal of Human Genetics - October 4, 2018 Category: Genetics & Stem Cells Authors: Frederike L. Harms, Katja Kloth, Annette Bley, Jonas Denecke, Ren é Santer, Davor Lessel, Maja Hempel, Kerstin Kutsche Tags: Article Source Type: research