Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

Screening for gene mutations in CDH23, which has many exons, has lagged even though it is likely to be an important cause for hearing loss patients. To assess the importance of CDH23 mutations in non-syndromic hearing loss, two-step screening was applied and clinical characteristics of the patients...

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Autores principales:	Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/78583aed27034b758a3eb82826895e73
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spelling	oai:doaj.org-article:78583aed27034b758a3eb82826895e732021-11-18T07:09:12ZPrevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.1932-620310.1371/journal.pone.0040366https://doaj.org/article/78583aed27034b758a3eb82826895e732012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22899989/?tool=EBIhttps://doaj.org/toc/1932-6203Screening for gene mutations in CDH23, which has many exons, has lagged even though it is likely to be an important cause for hearing loss patients. To assess the importance of CDH23 mutations in non-syndromic hearing loss, two-step screening was applied and clinical characteristics of the patients with CDH23 mutations were examined in this study. As a first screening, we performed Sanger sequencing using 304 probands compatible with recessive inheritance to find the pathologic mutations. Twenty-six possible mutations were detected to be pathologic in the first screening. For the second screening, using the probes for these 26 mutations, a large cohort of probands (n = 1396) was screened using Taqman amplification-based mutation analysis followed by Sanger sequencing. The hearing loss in a total of 52 families (10 homozygous, 13 compound heterogygous, and 29 heterozygous) was found to be caused by the CDH23 mutations. The majority of the patients showed congenital, high frequency involved, progressive hearing loss. Interestingly, some particular mutations cause late onset moderate hearing loss. The present study is the first to demonstrate the prevalence of CDH23 mutations among non-syndromic hearing loss patients and indicated that mutations of the CDH23 gene are an important cause of non-syndromic hearing loss.Maiko MiyagawaShin-ya NishioShin-ichi UsamiPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 8, p e40366 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Maiko Miyagawa Shin-ya Nishio Shin-ichi Usami Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
description	Screening for gene mutations in CDH23, which has many exons, has lagged even though it is likely to be an important cause for hearing loss patients. To assess the importance of CDH23 mutations in non-syndromic hearing loss, two-step screening was applied and clinical characteristics of the patients with CDH23 mutations were examined in this study. As a first screening, we performed Sanger sequencing using 304 probands compatible with recessive inheritance to find the pathologic mutations. Twenty-six possible mutations were detected to be pathologic in the first screening. For the second screening, using the probes for these 26 mutations, a large cohort of probands (n = 1396) was screened using Taqman amplification-based mutation analysis followed by Sanger sequencing. The hearing loss in a total of 52 families (10 homozygous, 13 compound heterogygous, and 29 heterozygous) was found to be caused by the CDH23 mutations. The majority of the patients showed congenital, high frequency involved, progressive hearing loss. Interestingly, some particular mutations cause late onset moderate hearing loss. The present study is the first to demonstrate the prevalence of CDH23 mutations among non-syndromic hearing loss patients and indicated that mutations of the CDH23 gene are an important cause of non-syndromic hearing loss.
format	article
author	Maiko Miyagawa Shin-ya Nishio Shin-ichi Usami
author_facet	Maiko Miyagawa Shin-ya Nishio Shin-ichi Usami
author_sort	Maiko Miyagawa
title	Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
title_short	Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
title_full	Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
title_fullStr	Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
title_full_unstemmed	Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
title_sort	prevalence and clinical features of hearing loss patients with cdh23 mutations: a large cohort study.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/78583aed27034b758a3eb82826895e73
work_keys_str_mv	AT maikomiyagawa prevalenceandclinicalfeaturesofhearinglosspatientswithcdh23mutationsalargecohortstudy AT shinyanishio prevalenceandclinicalfeaturesofhearinglosspatientswithcdh23mutationsalargecohortstudy AT shinichiusami prevalenceandclinicalfeaturesofhearinglosspatientswithcdh23mutationsalargecohortstudy
_version_	1718423858365595648

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

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