Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.

Objective: To analyze the physical manifestations and genetic features of 2 families segregating X-linked deafness, which is most commonly reported to be caused by mutations of the POU domain gene POU3F4 at the DFN3 locus.

Design: Computed tomographic study of the temporal bone in probands from each family, followed by mutation screening and deletion mapping of POU3F4 in family members.

Setting: Two midwestern genetics clinics.