RGD Reference Report - Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome. - Rat Genome Database

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

Authors: Declau, Frank  Van den Ende, Jenneke  Baten, Emiel  Mattelaer, Paul 
Citation: Declau F, etal., Otol Neurotol. 2005 Sep;26(5):934-40.
RGD ID: 12801467
Pubmed: PMID:16151340   (View Abstract at PubMed)


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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOGHumanhyperopia  IAGP associated with Multiple Synostoses Syndrome 1 and DNA:mutation:cds:1426G>C (P.W205C)(Human)RGD 
NogRathyperopia  ISONOG (Homo sapiens)associated with Multiple Synostoses Syndrome 1 and DNA:mutation:cds:1426G>C (P.W205C)(Human)RGD 
NogMousehyperopia  ISONOG (Homo sapiens)associated with Multiple Synostoses Syndrome 1 and DNA:mutation:cds:1426G>C (P.W205C)(Human)RGD 
NOGHumanmultiple synostoses syndrome 1  IAGP DNA:mutation:cds:1426G>C (P.W205C)(Human)RGD 
NogRatmultiple synostoses syndrome 1  ISONOG (Homo sapiens)DNA:mutation:cds:1426G>C (P.W205C)(Human)RGD 
NogMousemultiple synostoses syndrome 1  ISONOG (Homo sapiens)DNA:mutation:cds:1426G>C (P.W205C)(Human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOGHumanProximal/middle symphalangism of 5th finger  IAGP associated with Multiple Synostoses Syndrome 1 and DNA:mutation:cds:1426G>C (P.W205C)(Human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Nog  (noggin)

Genes (Mus musculus)
Nog  (noggin)

Genes (Homo sapiens)
NOG  (noggin)


Additional Information