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Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

Abstract：

:Mutations in the CDH23 gene are known to be responsible for both Usher syndrome type ID (USH1D) and non-syndromic hearing loss (DFNB12), and the molecular confirmation of the CDH23 gene has become important in the diagnosis of these conditions. The present study was performed to find whether the CDH23 mutations are also responsible for non-syndromic hearing loss in patients in the Japanese population. A total of 51 sequence variants were found in 64 Japanese probands with non-syndromic sensorineural hearing impairment from autosomal recessive families. Among them, at least four missense mutations in six patients from five families were confirmed to be responsible for deafness by segregation study. All mutations detected were missense mutations, corroborating the previous reports regarding DFNB12. The present data confirmed that CDH23 mutations are frequently found and significantly responsible in Japanese. Interestingly, the CDH23 mutation spectrum in Japanese is very different from that found in Caucasians. This Japanese spectrum may be representative of those in Eastern Asian populations and its elucidation is expected to facilitate the molecular diagnosis of DFNB12 and USH1D.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Wagatsuma M,Kitoh R,Suzuki H,Fukuoka H,Takumi Y,Usami S

doi

10.1111/j.1399-0004.2007.00833.x

subject

Has Abstract

pub_date

2007-10-01 00:00:00

pages

339-44

issue

4

eissn

0009-9163

issn

1399-0004

pii

CGE833

journal_volume

72

pub_type

杂志文章

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