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Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
- Source :
-
Nature Genetics . Dec2000, Vol. 26 Issue 4, p431. 4p. - Publication Year :
- 2000
-
Abstract
- More than 50% of severe childhood deafness is genetically determined, approximately 70% of which occurs without other abnormalities and is thus termed nonsyndromic[SUP1,2]. 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[SUP6], otoferlin[SUP7] and α-tectorin[SUP8], 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 θ=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 θ=0 for D1S2815. [ABSTRACT FROM AUTHOR]
- Subjects :
- *CONNEXINS
*GENETICS
*DEAF children
Subjects
Details
- Language :
- English
- ISSN :
- 10614036
- Volume :
- 26
- Issue :
- 4
- Database :
- Academic Search Index
- Journal :
- Nature Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 8815600
- Full Text :
- https://doi.org/10.1038/82558