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A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

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Chaïb, Hassan | Place, Christophe | Salem, Nabiha | Chardenoux, Sébastien | Vincent, Christophe | Weissenbach, Jean | El-Zir, Elie | Loiselet, Jacques | Petit, Christine

Edité par CCSD ; Oxford University Press (OUP) -

International audience. The recessive mode of transmission accounts for ∼75% of inherited non syndromic deafness cases. We have previously designed the conditions for linkage studies of this highly heterogeneous disorder [Guilford et al. (1994) Nature Genet. 6, 24–28]. Here, using a similar approach, we have studied the segregation of a gene responsible for congenital, profound and fully penetrant sensorineural deafness in a consanguineous family living in an isolated region of Lebanon. A maximum lod score of 8.03 (θ=0.00) was detected with a new polymorphic marker, AFMa052yb5 (D2S2144). Observed recombinants and homozygosity mapping define a maximum interval of 2 cM for this gene, DFNB6, which lies between AFMb346ye5 (a new polymorphic marker) (D2S2303) and AFM254vc9 (D2S174) on chromosome 2p22–23.

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