RGD Reference Report - Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. - Rat Genome Database

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Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

Authors: Takahashi, T  Takahashi, I  Komatsu, M  Sawaishi, Y  Higashi, K  Nishimura, G  Saito, H  Takada, G 
Citation: Takahashi T, etal., Clin Genet. 2001 Dec;60(6):447-51.
RGD ID: 12801455
Pubmed: PMID:11846737   (View Abstract at PubMed)

Proximal symphalangism is an autosomal-dominant disorder with ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. These symptoms are shared by another disorder of joint morphogenesis, multiple synostoses syndrome. Recently, it was reported that both disorders were caused by heterozygous mutations of the human noggin gene (NOG). To date, seven mutations of NOG have been identified from unrelated families affected with joint morphogenesis. To characterize the molecular lesions of proximal symphalangism, we performed analyses of NOG in three Japanese individuals with proximal symphalangism. We found three novel mutations: g.551G>A (C184Y) in a sporadic case of symphalangism, g.386T>A (L129X) in a familial case of symphalangism, and a g.58delC (frameshift) in a family with multiple synostosis syndrome. Characteristic genotype-phenotype correlations have not been recognized from the mutations in the NOG gene.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOGHumanproximal symphalangism  IAGP DNA:mutations:cds:g.551G>A (p.C184Y) more ...RGD 
NogRatproximal symphalangism  ISONOG (Homo sapiens)DNA:mutations:cds:g.551G>A (p.C184Y) more ...RGD 
NogMouseproximal symphalangism  ISONOG (Homo sapiens)DNA:mutations:cds:g.551G>A (p.C184Y) more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nog  (noggin)

Genes (Mus musculus)
Nog  (noggin)

Genes (Homo sapiens)
NOG  (noggin)


Additional Information