Article
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Human molecular genetics - 3 Jun 2020
Huang Yan, Mao Xiao, van Jaarsveld Richard H, Shu Li, Terhal Paulien A, Jia Zhengjun, Xi Hui, Peng Ying, Yan Huiming, Yuan Shan, Li Qibin, Wang Hua, Bellen Hugo J
Abstract excerpt
The actin cytoskeleton is regulated by many proteins including capping proteins that stabilize actin filaments (F-actin) by inhibiting actin polymerization and depolymerization. Here, we report two pediatric probands who carry damaging heterozygous de novo mutations in CAPZA2 (HGNC: 1490) and exhibit neurological symptoms with shared phenotypes including global motor development delay, speech delay, intellectual...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.