A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q

Author's response to reviews Title: A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1 Authors:

Autosomal dominant cone-rod dystrophy with negative electroretinogram.

AIMS The negative electroretinogram (ERG) is observed in many hereditary retinal disorders. However, no reports have described a negative ERG in a family with autosomal dominant cone-rod dystrophy. A Japanese family with autosomal dominant cone-rod dystrophy with negative ERG is described. METHOD Members of a Japanese family with autosomal dominant cone-rod dystrophy were examined and evaluat...

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

BACKGROUND Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 51 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis. OBJECTIVE To investigate the genes involved in a Dutch family with NSSHL. METHODS Linkage analysis in a large Dutch pedigree with progressive bilateral loss of the...

A 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...

A 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...