RGD Reference Report - Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes. - Rat Genome Database

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Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.

Authors: Ishino, Takashi  Takeno, Sachio  Hirakawa, Katsuhiro 
Citation: Ishino T, etal., Eur J Med Genet. 2015 Sep;58(9):427-32. doi: 10.1016/j.ejmg.2015.06.005. Epub 2015 Jul 26.
RGD ID: 12801450
Pubmed: PMID:26211601   (View Abstract at PubMed)
DOI: DOI:10.1016/j.ejmg.2015.06.005   (Journal Full-text)

Human noggin (NOG) gene mutation causes multiple bony disorders showing up as stapes ankylosis with broad thumbs and toes (SABTT), proximal symphalangism (SYM1), multiple synostoses syndrome 1 (SYNS1), tarsal-carpal coalition syndrome (TCC) and brachydactyly type B2 (BDB2). These phenotypes are defined as NOG-related syndromes with the same mutation. Some of these syndromes feature stapes ankylosis as one of the several bony symptoms. Here, we report a Japanese family with conductive hearing loss due to congenital stapes ankylosis. This family showed multiple features and was diagnosed with SABTT. We performed analysis of the NOG in the family by direct sequence analysis, and found a novel NOG mutation: c.682 T> G (p.C228G). Our results and a review of previous cases with NOG protein conformation suggest that this mutated NOG protein lead to a change in antagonist activity in BMPs and/or a haploinsufficiency that likely impaired finger 2 structure.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOGHumantarsal-carpal coalition syndrome  IAGP DNA:missense mutation:cds:c.682T>G (p.C228G)(human) RGD 
NogRattarsal-carpal coalition syndrome  ISONOG (Homo sapiens)DNA:missense mutation:cds:c.682T>G (p.C228G)(human) RGD 
NogMousetarsal-carpal coalition syndrome  ISONOG (Homo sapiens)DNA:missense mutation:cds:c.682T>G (p.C228G)(human) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nog  (noggin)

Genes (Mus musculus)
Nog  (noggin)

Genes (Homo sapiens)
NOG  (noggin)


Additional Information