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Article

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.

Clinical genetics - 1 Dec 2012

Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N

Abstract excerpt

Human noggin (NOG) is a responsible gene for multiple synostosis syndrome (SYNS1) and proximal symphalangism (SYM1), two conditions that are recently known to be within a wider range of clinical manifestations of stapes ankylosis with symphalangism. This study was performed to determine the range of phenotype caused by NOG mutations, using Japanese patients with various phenotypes including sporadic inherited...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22288654
DOI: 10.1111/j.1399-0004.2011.01831.x
PMCID: PMC3532604

Genes

NOG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.PMID 22288654Read ↗

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.Semantic proximity Read ↗

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.Semantic proximity Read ↗

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.Semantic proximity Read ↗

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).Semantic proximity Read ↗

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.Semantic proximity Read ↗

Characterization of a stapes ankylosis family with a NOG mutation.Semantic proximity Read ↗

Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.Semantic proximity Read ↗

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.Semantic proximity Read ↗

Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?Semantic proximity Read ↗

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.Semantic proximity Read ↗

Multiple synostoses syndrome: Clinical report and retrospective analysis.Semantic proximity Read ↗

Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome.Semantic proximity Read ↗

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