Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.
Ann Otol Rhinol Laryngol
; 120(4): 243-8, 2011 Apr.
Article
em En
| MEDLINE
| ID: mdl-21585154
ABSTRACT
OBJECTIVES:
We undertook to show that in a family with nonsyndromic autosomal dominant sensorineural hearing loss, genetic analysis can be successful when there is a match with a specific DFNA audioprofile. We also provide an update of relevant DFNA2/KCNQ4 audioprofiles and report the results of automatic audioprofile analysis using the Internet program AudioGene.METHODS:
Audiometric data and blood samples were obtained from the family W08-0384. Based on the audiograms of the affected participants, mutation analysis of KCNQ4 was started. Original audiometric threshold data were collected for all identified KCNQ4-related DFNA2 families. The Internet computer program AudioGene, recently developed for automatic audioprofile analysis, was accessed.RESULTS:
The family's audioprofile and the program AudioGene predicted the DFNA2/KCNQ4 locus. Mutation analysis of KCNQ4 revealed a c.821T>A (p.Leu274His) mutation of the KCNQ4 gene. This mutation has been previously identified in a Dutch family. Genetic analysis revealed a common haplotype in these two families over a region including the KCNQ4 gene.CONCLUSIONS:
Familiarity with the audioprofiles of DFNA traits may lead to successful mutation analysis of the gene involved, even in a small family in which genetic linkage analysis is not an option. Alternatively, the specially developed program AudioGene can be accessed on the Internet to perform automatic audioprofile analysis of a family's (audiological) phenotype.
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Base de dados:
MEDLINE
Assunto principal:
Software
/
Análise Mutacional de DNA
/
Canais de Potássio KCNQ
/
Perda Auditiva Neurossensorial
Limite:
Humans
/
Male
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article