Histopathology of Nonsyndromic Autosomal Dominant Midfrequency Sensorineural Hearing Loss
نویسندگان
چکیده
منابع مشابه
An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of congenitally acquired inherited hearing impairment. Although numerous loci are believed to exist, only five have been identified. Using a pooled genomic DNA screening strategy, we have identified a sixth locus, DFNB6, on 3p in the interval bounded by D3S1619 and D3S1766.
متن کاملAssociation of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.
IMPORTANCE Sensorineural hearing loss (SNHL) is commonly caused by conditions that affect cochlear structures or the auditory nerve, and the genes identified as causing SNHL to date only explain a fraction of the overall genetic risk for this debilitating disorder. It is likely that other genes and mutations also cause SNHL. OBJECTIVE To identify a candidate gene that causes bilateral, symmet...
متن کاملInherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.
OBJECTIVE To study nonsyndromic progressive sensorineural hearing loss (SNHL) with significant linkage to the DFNA2 locus on chromosome 1p in a Dutch kindred. DESIGN A 6-generation family with 194 family members was studied. Of the presumably affected persons, 43 were examined in detail to obtain audiograms and 37 underwent vestibulo-ocular examination. RESULTS Regression analysis showed si...
متن کاملTwo Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL. Only a minority has been associated with autosomal dominant hearing loss. In this study, we present two families with autosomal dominant nonsyndromic hearing...
متن کاملComprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients
BACKGROUND In general, autosomal dominant inherited hearing loss does not have a founder mutation, with the causative mutation different in each family. For this reason, there has been a strong need for efficient diagnosis methods for autosomal dominant sensorineural hearing loss (ADSNHL) patients. This study sought to verify the effectiveness of our analysis algorithm for the screening of ADSN...
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ژورنال
عنوان ژورنال: Otology & Neurotology
سال: 2008
ISSN: 1531-7129
DOI: 10.1097/mao.0b013e3181778245