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- Title
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
- Authors
Tsukamoto, Koji; Suzuki, Hiroaki; Harada, Daisuke; Namba, Atsushi; Abe, Satoko; Usami, Shin-ichi
- Abstract
Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification, prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be responsible for both Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct, and the molecular confirmation of the PDS gene has become important in the diagnosis of these conditions. In the present study, PDS mutation analysis confirmed that PDS mutations were present and significantly responsible in 90% of Pendred families, and in 78.1% of families with nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Furthermore, variable phenotypic expression by the same combination of mutations indicated that these two conditions are part of a continuous category of disease. Interestingly, the PDS mutation spectrum in Japanese, including the seven novel mutations revealed by this study, is very different from that found in Caucasians. Of the novel mutations detected, 53% were the H723R mutation, suggesting a possible founder effect. Ethnic background is therefore presumably important and should be noted when genetic testing is being performed. The PDS gene mutation spectrum in Japanese may be representative of those in Eastern Asian populations and its elucidation is expected to facilitate the molecular diagnosis of a variety of diseases.European Journal of Human Genetics (2003) 11, 916-922. doi:10.1038/sj.ejhg.5201073 Published online 24 September 2003
- Subjects
GENES; SYNDROMES; VESTIBULAR apparatus; GENETIC mutation; JAPANESE people
- Publication
European Journal of Human Genetics, 2003, Vol 11, Issue 12, p916
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201073