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Article

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

American journal of medical genetics. Part A - 1 Feb 2026

Showpnil Iftekhar A, Daley Allison, Sites Emily R, Plourde Shayne M, Hunter Jesse M, Bartholomew Dennis W, Lehman April N, Koboldt Daniel C, Stottmann Rolf W

Abstract excerpt

Germline ZFX variants are associated with an X-linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20-year-old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male. She exhibited motor and speech delays with hypotonia in early childhood, and was later diagnosed with congenital...

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Share to Frameshift Mutation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41074764
DOI: 10.1002/ajmg.a.64280
PMCID: PMC12640707

Genes

ZFX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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