Genetic mapping refines DFNB3 (ital) to 17p11.2, suggests multiple alleles of DFNB3 (ital), and supports homology to the mouse model shaker-2 (ital)

Genetic mapping has refined DFNB3 (ital), the nonsyndromic congenital recessive deafness gene, to 17p11.2 and suggested multiple alleles of DFNB3 (ital). It also supports homology to the mouse model shaker-2 (ital). DFNB3 (ital) was first identified in a village in Bali in Indonesia. Affected individuals from that village and from a neighboring village have been found to be homozygous for the same alleles for six adjacent short tandem repeats (STRs) in the DFNB3 (ital) region and heterozygous for other distal markers. Nonsyndromic deafness in two unrelated consanguineous Indian families were linked to the same region. DFNB3 (ital) appears to make a significant contribution to hereditary deafness in the world.