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Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

Abstract：

:Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by these two genes. PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation. The genetic approach provides a strong tool for the diagnosis of hearing loss associated with ear anomalies.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Namba A,Abe S,Shinkawa H,Kimberling WJ,Usami SI

doi

10.1007/s100380170033

keywords:

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

518-21

issue

9

eissn

1434-5161

issn

1435-232X

journal_volume

46

pub_type

杂志文章

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