Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

doi:10.1016/j.ajhg.2025.04.008

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Article

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

American journal of human genetics - 5 Jun 2025

Pérez Baca María Del Rocío, Palomares-Bralo María, Vanhooydonck Michiel, Hamerlinck Lisa, D'haene Eva, Leimbacher Sebastian, Jacobs Eva Z, De Cock Laurenz, D'haenens Erika, Dheedene Annelies, Malfait Zoë, Vantomme Lies, Silva Ananilia, Rooney Kathleen, Zhao Xiaonan, Saeidian Amir Hossein, Owen Nichole Marie, Santos-Simarro Fernando, Lleuger-Pujol Roser, García-Miñaúr Sixto, Losantos-García Itsaso, Menten Björn, Gestri Gaia, Ragge Nicola, Sadikovic Bekim, Bogaert Elke, Vleminckx Kris, Naert Thomas, Syx Delfien, Callewaert Bert, Vergult Sarah

Abstract excerpt

8q21.11 microdeletions involving ZFHX4 have previously been associated with a syndromic form of intellectual disability, hypotonia, unstable gait, and hearing loss. We report on 63 individuals-57 probands and 6 affected family members-with protein-truncating variants (n = 41), (micro)deletions (n = 21), or an inversion (n = 1) affecting ZFHX4. Probands display variable developmental delay and intellectual...

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Identifiers

PMID: 40367947
DOI: 10.1016/j.ajhg.2025.04.008
PMCID: PMC12256859

Genes

ZFHX4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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