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Article

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

American journal of human genetics - 13 Jul 2012

Webb Bryn D, Shaaban Sherin, Gaspar Harald, Cunha Luis F, Schubert Christian R, Hao Ke, Robson Caroline D, Chan Wai-Man, Andrews Caroline, MacKinnon Sarah, Oystreck Darren T, Hunter David G, Iacovelli Anthony J, Ye Xiaoqian, Camminady Anne, Engle Elizabeth C, Jabs Ethylin Wang

Abstract excerpt

Members of the highly conserved homeobox (HOX) gene family encode transcription factors that confer cellular and tissue identities along the antero-posterior axis of mice and humans. We have identified a founder homozygous missense mutation in HOXB1 in two families from a conservative German American population. The resulting phenotype includes bilateral facial palsy, hearing loss, and strabismus and correlates...

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Share to Founder Effect
Share to Hearing Loss, Sensorineural

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

Share to Homeodomain Proteins

Share to Models, Molecular

Share to Mutation, Missense

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Share to Transcription, Genetic

Share to Transcriptional Activation

Source

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Identifiers

PMID: 22770981
DOI: 10.1016/j.ajhg.2012.05.018
PMCID: PMC3397264

Genes

HOXB1
PBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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