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Stapes Ankylosis in a Family with a Novel NOG Mutation: Otologic Features of the Facioaudiosymphalangism Syndrome

Declau, Frank*; Van den Ende, Jenneke; Baten, Emiel; Mattelaer, Paul§

doi: 10.1097/01.mao.0000185074.58199.6b
Genetic Hearing Loss
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Objective: To report the phenotype-genotype correlation in a Belgian family that was ascertained to have a novel missense mutation in the NOG gene mapping to chromosome 17q22.

Study Design: To describe the phenotype, a retrospective case study was performed based on the otologic, audiologic, ophthalmologic, and radiologic data of the mutation carriers of the NOG gene.

Setting: Tertiary referral center.

Patients: All members of a Belgian kindred who carried the novel missense mutation in the NOG gene (NOG, Trp205Cys [W205C]; 1426G>C).

Interventions: Diagnostic otologic and ophthalmologic examination, audiometric analysis, and radiologic imaging.

Main Outcome Measures: Phenotype-genotype correlations.

Results: All five mutation carriers had a typical facies. Bilateral proximal symphalangism and hyperopia were present in 80%. Five of 10 ears also had progressive early-onset conductive hearing loss caused by stapes ankylosis.

Conclusions: So far, 14 independent NOG mutations have been identified. The autosomal dominant disorder described in the present family was caused by a novel NOG missense mutation (NOG, Trp205Cys [W205C]; 1426G>C). The phenotype correlated well with the facioaudiosymphalangism syndrome. The mutation carriers demonstrated progressive multiple joint fusions, hyperopia, early-onset conductive deafness, and a typical facies.

*Department of Oto-Rhino-Laryngology and †Department of Medical Genetics, University of Antwerp, and ‡Department of Radiology and §Department of Pediatrics, St-Lucas Hospital, Brugge, Belgium

Address correspondence and reprint requests to: Frank Declau, M.D., Ph.D., Department of ENT, Head & Neck Surgery, University Hospital of Antwerp, Wilrijkstraat 10, 2650 Edegem, Belgium; E-mail: frank.declau@pandora.be

© 2005 Otology & Neurotology, Inc.