A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
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چکیده
منابع مشابه
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.
Hereditary hearing loss is divided into two groups, syndromic and non-syndromic, the latter being more common and highly heterogeneous. Linkage analyses were performed on a Japanese family showing a dominant form of non-syndromic progressive sensorineural hearing loss. This gene (DFNA11) was localized within the region of chromosome 11q which contains the second gene for a recessive form of non...
متن کاملA novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.
Non-syndromic X-linked deafness is highly heterogeneous. At least five different clinical forms have been described, but only two loci have been mapped. Here we report a Spanish family affected by a previously undescribed X-linked form of hearing impairment. Deafness is non-syndromic, sensorineural, and progressive. In affected males, the auditory impairment is first detected at school age, aff...
متن کاملA novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.
BACKGROUND Non-syndromic hearing loss is among the most genetically heterogeneous traits known in humans. To date, at least 50 loci for autosomal dominant non-syndromic sensorineural hearing loss (ADNSSHL) have been identified by linkage analysis. OBJECTIVE To report the mapping of a novel autosomal dominant deafness locus on the long arm of chromosome 14 at 14q11.2-q12, DFNA53, in a large mu...
متن کاملA novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter.
We have studied 36 subjects in a large multigenerational Chinese family that is segregating for an autosomal dominant adult onset form of progressive non-syndromic hearing loss. All affected subjects had bilateral sensorineural hearing loss involving all frequencies with some significant gender differences in initial presentation. After excluding linkage to known loci for non-syndromic deafness...
متن کاملfrequency of connexin26 gene mutations in autosomal recessive non-syndromic deafness in kermanshah(2002-4)
introduction: hearing loss is the most common sensory defect in humans, affecting approximately 1 in 1000 neonates in which genetic factors are involved in more than 50%. connexin 26 or gjb2 gene mutations are responsible for half of autosomal recessive non-syndromic hearing losses. the purpose of this study was to determine the gjb2 mutations frequency in autosomal recessive non-syndromic deaf...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1996
ISSN: 1460-2083
DOI: 10.1093/hmg/5.6.849