P. Guilford et al., A HUMAN GENE RESPONSIBLE FOR NEUROSENSORY, NONSYNDROMIC RECESSIVE DEAFNESS IS A CANDIDATE HOMOLOG OF THE MOUSE SH-1 GENE, Human molecular genetics, 3(6), 1994, pp. 989-993
The identification of mouse models for the various forms of human neur
osensory non-syndromic recessive deafness would constitute a major adv
ance in the study of human deafness. Here we describe the localization
of a human gene for neurosensory, nonsyndromic recessive deafness (NS
RD2) to chromosome 11q13.5 by linkage analysis of a highly consanguine
ous family. A maximum lod score of 10.63 (theta = 0.018) was obtained
for the microsatellite marker D11S527. Homozygosity mapping refined th
e localization of NSRD2 to a 6 cM interval also containing the olfacto
ry marker protein (OMP) gene. The murine homologue of OMP is tightly l
inked to the autosomal recessive deafness gene sh-1. These results, an
d clinical data, suggest that NSRD2 is the human homologue of the mous
e sh-1 gene.