Idioma:

The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians

Searle, Claire ; Mavrogiannis, Lampros A ; Bennett, Christopher P ; Charlton, Ruth S

Genetic testing and molecular biomarkers, 2012-05, Vol.16 (5), p.453-455 [Periódico revisado por pares]

United States

Texto completo disponível

Citações Citado por

Enviar para

Título:
The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians
Autor: Searle, Claire ; Mavrogiannis, Lampros A ; Bennett, Christopher P ; Charlton, Ruth S
Assuntos: Asian Continental Ancestry Group - genetics ; Connexins ; Data processing ; Deafness ; Deafness - epidemiology ; Deafness - etiology ; Deafness - genetics ; Gene Frequency ; Gene mapping ; Genetic Predisposition to Disease ; Genetic screening ; Hearing loss ; Humans ; Membrane Proteins - genetics ; Mutation ; Prevalence ; United Kingdom - ethnology
É parte de: Genetic testing and molecular biomarkers, 2012-05, Vol.16 (5), p.453-455
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ObjectType-Article-2
ObjectType-Feature-1
Descrição: TMC1, a second-tier deafness gene below GJB2, is an appreciable cause of recessive nonsyndromic hearing loss (DFNB7/11) in North Africa, the Middle East, and parts of South Asia. Additionally, a single founder mutation, c.100C>T (p.Arg34X), dominates the TMC1 mutation spectrum. We investigated the frequency of TMC1 c.100C>T in a large set of British Asians with hearing loss, collectively a group with high prevalence of genetic deafness and limited routine clinical testing options beyond GJB2, on a candidate basis. An estimate of 0.21% (95% confidence interval, 0.04%-1.18%) was gained, indicating no significant enrichment in our set. Identification of the common non-GJB2 deafness genes and mutations in British Asian communities would require data from autozygosity mapping and/or massively parallel sequencing of gene panels.
Editor: United States
Idioma: Inglês

Links

View this record in MEDLINE/PubMed

Voltar para lista de resultados

Anterior Resultado 6 Avançar Ir para próxima página

Realização: Logos de Redes Sociais:

The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians

Searle, Claire ; Mavrogiannis, Lampros A ; Bennett, Christopher P ; Charlton, Ruth S

United States

Buscando em bases de dados remotas. Favor aguardar.