Deafness, Autosomal Recessive 14

Clinical Features

Mustapha et al. (1998) reported a large consanguineous Lebanese family affected with a prelingual profound sensorineural isolated form of deafness.

Mapping

Mustapha et al. (1998) performed linkage analysis in a Lebanese family affected with a prelingual profound sensorineural isolated form of deafness and placed the deafness locus between D7S554 and D7S2459 on 7q31, with a maximum lod score of 6.3. The causative gene was mapped to a 15-cM interval extending from D7S527 to D7S3074 (on the telomeric side). The DFNB14 gene on 7q31 lies proximal to PDS. Because of the identical location and phenotype, this locus and that identified as DFNB17 (603010) may be the same.

Molecular Genetics

Exclusion Studies

Because DFNB14 maps close to the PDS gene mutant in Pendred syndrome (274600), Mustapha et al. (1998) sequenced all 21 exons of the PDS gene and found no mutations.