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Article

HOXA1 mutations are not a common cause of Möbius syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Feb 2010

Rankin Jessica K, Andrews Caroline, Chan Wai-Man, Engle Elizabeth C

Abstract excerpt

The HOXA1-related syndromes result from autosomal-recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disa...

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Source

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Identifiers

PMID: 20227628
DOI: 10.1016/j.jaapos.2009.11.007
PMCID: PMC2862693

Genes

HOXA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20227628-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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HOXA1 mutations are not a common cause of Möbius syndrome.PMID 20227628Read ↗

HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness.Semantic proximity Read ↗

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.Semantic proximity Read ↗

A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.Semantic proximity Read ↗

Broad-Spectrum Möbius Syndrome Associated with a 1;11 Chromosome TranslocationSemantic proximity Read ↗

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.Semantic proximity Read ↗

Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome.Semantic proximity Read ↗

Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch familySemantic proximity Read ↗

Mice with targeted disruption of Hoxb-1 fail to form the motor nucleus of the VIIth nerve.Semantic proximity Read ↗

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.Semantic proximity Read ↗

Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.Semantic proximity Read ↗

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.Semantic proximity Read ↗

Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients.Semantic proximity Read ↗

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