Results

RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/16151340http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16151340http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/16151340http://purl.org/dc/terms/identifier"doi:10.1097/01.mao.0000185074.58199.6b"xsd:string
http://purl.uniprot.org/citations/16151340http://purl.uniprot.org/core/author"Declau F."xsd:string
http://purl.uniprot.org/citations/16151340http://purl.uniprot.org/core/author"Baten E."xsd:string
http://purl.uniprot.org/citations/16151340http://purl.uniprot.org/core/author"Mattelaer P."xsd:string
http://purl.uniprot.org/citations/16151340http://purl.uniprot.org/core/author"Van den Ende J."xsd:string
http://purl.uniprot.org/citations/16151340http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/16151340http://purl.uniprot.org/core/name"Otol Neurotol"xsd:string
http://purl.uniprot.org/citations/16151340http://purl.uniprot.org/core/pages"934-940"xsd:string
http://purl.uniprot.org/citations/16151340http://purl.uniprot.org/core/title"Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome."xsd:string
http://purl.uniprot.org/citations/16151340http://purl.uniprot.org/core/volume"26"xsd:string
http://purl.uniprot.org/citations/16151340http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/16151340
http://purl.uniprot.org/citations/16151340http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/16151340
http://purl.uniprot.org/uniprot/Q13253#attribution-829DD7DF7D94790F93779C5C36972D9Chttp://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/16151340