Aslam et al. (2005) reported a consanguineous Pakistani family in which 5 members, including 4 sibs, had a prelingual nonprogressive nonsyndromic form of sensorineural deafness involving all frequencies.
Borck et al. (2011) identified 10 additional families ... Aslam et al. (2005) reported a consanguineous Pakistani family in which 5 members, including 4 sibs, had a prelingual nonprogressive nonsyndromic form of sensorineural deafness involving all frequencies. Borck et al. (2011) identified 10 additional families with DFNB42, including 8 of Pakistani origin and 2 of Iranian origin. The hearing impairment in these families was prelingual, bilateral, and moderate to profound. In most affected individuals, the hearing impairment was more pronounced at higher frequencies, but some had a flat audiogram. None had vestibular abnormalities.
Borck et al. (2011) identified 10 different homozygous mutations in the ILDR1 gene (see, e.g., 609739.0001-609739.0004) in affected members of 11 unrelated families with autosomal recessive nonsyndromic DFNB42. Seven of the mutations were predicted to result in a ... Borck et al. (2011) identified 10 different homozygous mutations in the ILDR1 gene (see, e.g., 609739.0001-609739.0004) in affected members of 11 unrelated families with autosomal recessive nonsyndromic DFNB42. Seven of the mutations were predicted to result in a truncated protein, consistent with loss of function.