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Article

Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Dec 2009

Emery Sarah B, Meyer Anna, Miller Laura, Lesperance Marci M

Abstract excerpt

HYPOTHESIS: Molecular genetic testing is useful to differentiate otosclerosis from syndromic stapes ankylosis. BACKGROUND: Congenital stapes ankylosis is genetically heterogeneous. Mutations in the NOG gene are known to be associated with a variety of rare stapes ankylosis syndromes including stapes ankylosis with broad thumbs and toes, multiple synostoses syndrome, and proximal symphalangism. These syndromes...

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Source

Identifiers

PMID: 19471170
DOI: 10.1097/MAO.0b013e31819e6398

Genes

NOG

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.

Related research

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Research trail→

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Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.PMID 19471170Read ↗

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

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 ↗

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

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

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.Semantic proximity Read ↗

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

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

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by a NOG mutationSemantic proximity Read ↗

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

Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder.Semantic proximity Read ↗

Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.Semantic proximity Read ↗

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