Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan

Autosomal recessive childhood-onset non-syndromic deafness is one of themost frequent forms of inherited hearing impairment. Recently fivedifferent chromosomal regions, 7q31, 11q13.5, 13q12, 14q and thepericentromeric region of chromosome 17, have been shown to harbour diseaseloci for this type of neurosensory deafness. We have studied a large familyfrom Pakistan, containing several consanguineous marriages and segregatingfor a recessive non-syndromic childhood-onset deafness. Linkage analysismapped the disease locus (DFNB8) on the distal long arm of chromosome 21,most likely between D21S212 and D21S1225 with the highest lod score of 7.31at theta = 0.00 for D21S1575 on 21q22.3.