This report describes intellectual disability, syndromic, autosomal dominant, ZMYND8-related, an automosomal dominant syndromic intellectual disability with frequent structural cardiac abnormalities. The human gene implicated in this disease is ZMYND8, a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. There is a single orthologous gene in Drosophila, Dmel\Zmynd8, for which classical alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.
The human gene ZMYND8 gene has not been introduced into flies.
Neuronal knock-down phenotypes of Dmel\Zmynd8 include impairment of habituation learning.
[updated Oct. 2022 by FlyBase; FBrf0222196]
Eleven unrelated individuals carrying de novo truncating or missense variants in ZMYND8 have a syndromic form of intellectual disability including frequent structural cardiac anomalies and nonfamilial facial features. (Dias et al., 2022; pubmed:35916866; FBrf0254481).
Intellectual disability, syndromic, autosomal dominant, ZMYND8-related results from heterozygous mutation in the gene encoding zinc finger MYND-type containing 8 (ZMYND8). (Dias et al., 2022; pubmed:35916866; FBrf0254481).
ZMYND8 encodes a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [RefSeq, Jul. 2008]
One to one: human gene to Drosophila gene.
High-scoring ortholog of human ZMYND8; (1 Drosophila to 1 human).
