C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.

doi:10.1016/j.gim.2025.101429

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Article

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2025

Mok Jung-Wan, Mackay Laura, Blazo Maria, Mizerik Elizabeth, Gecz Jozef, Carroll Renee, Nizon Mathilde, Rondeau Sophie, Joubert Madeleine, Cuinat Silvestre, Deb Wallid, Valle Sirias Fernanda, Weisz-Hubshman Monika, Ketkar Shamika, Polak Urszula, Tran Alyssa A, Kearney Debra, Hanchard Neil A, Kanca Oguz, Wangler Michael F, Bellen Hugo J, Lee Brendan H, Yamamoto Shinya, Machol Keren

Abstract excerpt

PURPOSE: GPKOW, a gene on the X-chromosome, encodes a nuclear RNA-binding protein important in messenger RNA (mRNA) processing as a spliceosome subunit. This work aims to establish GPKOW as a disease-associated gene. METHODS: We describe 3 males from 2 unrelated families with hemizygous frameshift variants affecting the last exon of GPKOW p.(Arg441SerfsTer30) and p.(Ser444GlufsTer28). The effect of...

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Topics

Humans
Animals
Frameshift Mutation
Male

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Drosophila melanogaster

Pedigree

Genetic Diseases, X-Linked

RNA-Binding Proteins

Microcephaly

Child

Phenotype

Fibroblasts

Drosophila Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 40221893
DOI: 10.1016/j.gim.2025.101429
PMCID: PMC12435177

Genes

GPKOW

Provenance

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