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- Title
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
- Authors
Riazuddin, S; Castelein, C M; Ahmed, Z M; Lalwani, A K; Mastroianni, M A; Naz, S; Smith, T N; Liburd, N A; Friedman, T B; Griffith, A J; Riazuddin, S; Wilcox, E R
- Abstract
More than 50% of severe childhood deafness is genetically determined, approximately 70% of which occurs without other abnormalities and is thus termed nonsyndromic. So far, 30 nonsyndromic recessive deafness loci have been mapped and the defective genes at 6 loci, DFNB1, DFNB2, DFNB3, DFNB4, DFNB9 and DNFB21, have been identified, encoding connexin-26 (ref. 3), myosin VIIA (ref. 4), myosin XV (ref. 5), pendrin, otoferlin and alpha-tectorin, respectively. Here we map a new recessive nonsyndromic deafness locus, DFNB26, to a 1.5-cM interval of chromosome 4q31 in a consanguineous Pakistani family. A maximum lod score of 8.10 at theta=0 was obtained with D4S1610 when only the 8 affected individuals in this family were included in the calculation. There are seven unaffected family members who are also homozygous for the DFNB26-linked haplotype and thus are non-penetrant. A dominant modifier, DFNM1, that suppresses deafness in the 7 nonpenetrant individuals was mapped to a 5.6-cM region on chromosome 1q24 with a lod score of 4.31 at theta=0 for D1S2815.
- Publication
Nature genetics, 2000, Vol 26, Issue 4, p431
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/82558