Connexin 26 Studies in Patients With Sensorineural Hearing Loss

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منابع مشابه

Connexin 26 studies in patients with sensorineural hearing loss.

OBJECTIVE To determine the spectrum of connexin 26 (Cx26) mutations and their phenotypes in children with sensorineural hearing loss (SNHL) or mixed hearing loss (MHL). DESIGN Children with SNHL or MHL were prospectively tested for mutations in the entire coding region of the Cx26 gene. PATIENTS Children with SNHL or MHL with no obvious etiology for the hearing loss. RESULTS Between Decem...

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Analysis of GJB2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss

South European cases with autosomal recessive inherited hearing loss (4,8). The frequent incidence of the 35delG mutation requires analyzing both affected individuals and parents (in terms of being carriers) for genetic counseling. The aim of this study was to determine the frequency of GJB2 gene mutations in patients with congenital NSSNHL and to investigate new mutations of the GJB2 gene in o...

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Studying VEMP in Sudden Sensorineural Hearing Loss

Introduction: Sudden sensorineural hearing loss (SSNHL) has a prevalence of 10 in 100,000. Viral infections, vascular obstruction and rupture of the intracochlear membranes are supposed to be its most common etiologies. About 40% of patients experience vertigo or imbalance. The VEMP (vestibular evoked myogenic potentials) test is a known approach for detailed study of the labyrinth. The advant...

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Prevalence of Sensorineural Hearing Loss in Patients with Congenital Hypothyroidism in Qazvin, Iran (2015)

Background: Congenital hypothyroidism increases the risk of sensorineural hearing loss (SNHL). Children with hearing impairment are prone to communication disorders. The present study aimed to determine the prevalence of SNHL in patients with congenital hypothyroidism in Qazvin, Iran. Methods: This cross-sectional study was conducted on children with transient or permanent congenital hypothyroi...

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Screening of Connexin 26 in Nonsyndromic Hearing Loss

Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11-22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to change the diagnostic evaluation and identification of the etio...

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ژورنال

عنوان ژورنال: Archives of Otolaryngology–Head & Neck Surgery

سال: 2001

ISSN: 0886-4470

DOI: 10.1001/archotol.127.9.1037