DFNA25, a Novel Locus for Dominant Nonsyndromic Hereditary Hearing Impairment, Maps to 12q21-24
نویسندگان
چکیده
منابع مشابه
Phenotypic characterization of hereditary hearing impairment linked to DFNA25.
OBJECTIVES To clinically characterize a family with nonsyndromic sensorineural hearing loss linked to the DFNA25 gene and to assess whether mitochondrial mutations influence the penetrance of the phenotype. DESIGN Longitudinal clinical and basic science molecular genetic study. SETTING Academic medical center and molecular genetic research laboratory. PARTICIPANTS Members of a family with...
متن کاملNovel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
A novel locus DFNB90 was mapped to 7p22.1-p15.3 by carrying out a genome scan in a multigenerational consanguineous family from Pakistan with autosomal recessive nonsyndromic hearing impairment (ARNSHI).DFNB90 is the eighth ARNSHI locus mapped to chromosome 7. A multipoint LOD score of 4.0 was obtained at a number of SNP marker loci spanning from rs1468996 (chromosome 7: 5.7 Mb) tors957960 (chr...
متن کاملA 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...
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P rogressive hearing loss is a significant problem in all ageing populations. By the age of 80 years, nearly 50% of individuals have hearing loss that impairs their ability to communicate easily, leading to increasing social isolation. Progressive hearing loss in middle and late adulthood is considered multifactorial, with involvement of both genetic and environmental factors. In contrast, chil...
متن کاملA Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2001
ISSN: 0002-9297
DOI: 10.1086/316925