Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family
1998 (English)In: American Journal of Human Genetics, ISSN 0002-9297, Vol. 63, no 3, 786-93 p.Article in journal (Refereed) Published
We investigated a Swedish family with nonsyndromic progressive bilateral sensorineural hearing loss. Thirteen candidate loci for autosomal dominant nonsyndromic hearing loss were tested for linkage in this family. We found significant LOD scores (>3) for markers at candidate locus DFNA12 (11q22-q24) and suggestive LOD scores (>2) for markers at locus DFNA2 (1p32). Our results for markers on chromosome 11 narrowed down the candidate region for the DFNA12 locus. A detailed analysis of the phenotypes and haplotypes shared by the affected individuals supported the notion that two genes segregated together with hearing impairment in the family. Severely affected family members had haplotypes linked to the disease allele on both chromosomes 1 and 11, whereas individuals with milder hearing loss had haplotypes linked to the disease allele on either chromosome 1 or chromosome 11. These observations suggest an additive effect of two genes, each gene resulting in a mild and sometimes undiagnosed phenotype, but both together resulting in a more severe phenotype.
Place, publisher, year, edition, pages
1998. Vol. 63, no 3, 786-93 p.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-51909DOI: 10.1086/302012PubMedID: 9718342OAI: oai:DiVA.org:uu-51909DiVA: diva2:79818