A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23

The recessive mode of transmission accounts for approximately 75% ofinherited non syndromic deafness cases. We have previously designed theconditions for linkage studies of this highly heterogeneous disorder[Guilford et al. (1994) Nature Genet. 6, 24-28]. Here, using a similarapproach, we have studied the segregation of a gene responsible forcongenital, profound and fully penetrant sensorineural deafness in aconsanguineous family living in an isolated region of Lebanon. A maximumlod score of 8.03 (theta = 0.00) was detected with a new polymorphicmarker, AFMa052yb5 (D2S2144). Observed recombinants and homozygositymapping define a maximum interval of 2 cM for this gene, DFNB6, which liesbetween AFMb346ye5 (a new polymorphic marker) (D2S2303) and AFM254vc9(D2S174) on chromosome 2p22-23.