H. Chaib et al., MAPPING OF DFNB12, A GENE FOR A NON-SYNDROMAL AUTOSOMAL RECESSIVE DEAFNESS, TO CHROMOSOME 10Q21-22, Human molecular genetics, 5(7), 1996, pp. 1061-1064
We report here, the localization of a new recessive non-syndromal deaf
ness gene (DFNB12) to 10q21-22 by linkage analysis, of a Sunni family,
Affected individuals suffer from congenital profound sensorineural he
aring loss. A maximum LOD score of 6.40 (theta = 0.00) was obtained wi
th locus D10S535, Analysis of patients carrying recombinations mapped
the gene distal to D10S529 and proximal to D10S532, delineating an int
erval between 11 and 15 cM, Three deaf mouse mutants Jackson circler (
jc), waltzer (v) and Ames waltzer (av) have been localized to the homo
logous murine region on chromosome 10, Each of these mouse mutants is
a candidate mouse model for the DFNB12-associated hearing impairment.