Article
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
The Journal of pathology - 1 Jan 2022
Gangfuß Andrea, Czech Artur, Hentschel Andreas, Münchberg Ute, Horvath Rita, Töpf Ana, O'Heir Emily, Lochmüller Hanns, Stehling Florian, Kiewert Cordula, Sickmann Albert, Kuechler Alma, Kaiser Frank J, Kölbel Heike, Christiansen Jon, Schara-Schmidt Ulrike, Roos Andreas
Abstract excerpt
Recessive variants in WASHC4 are linked to intellectual disability complicated by poor language skills, short stature, and dysmorphic features. The protein encoded by WASHC4 is part of the Wiskott-Aldrich syndrome protein and SCAR homolog family, co-localizes with actin in cells, and promotes Arp2/3-dependent actin polymerization in vitro. Functional studies in a zebrafish model suggested that WASHC4 knockdown...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.