Deafness, Autosomal Recessive 61

A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-61 (DFNB61) is caused by compound heterozygous mutation in the SLC26A5 (PRES) gene (604943) on chromosome 7q22. One such family has been reported.

Clinical Features

Liu et al. (2003) reported 2 unrelated families segregating nonsyndromic autosomal recessive deafness. One of the probands was born to consanguineous parents in a multiplex sibship, whereas the other was born to nonconsanguineous parents in a simplex sibship. Both probands had a severe profound bilateral hearing loss that appeared to have been congenital with no evidence of progression.

Mutai et al. (2013) reported 2 sisters, aged 6 and 9 years, who had moderate to severe hearing loss and mutation in the SLC26A5 gene (see MOLECULAR GENETICS).

Molecular Genetics

In 2 of 220 hearing-impaired Caucasian probands, Liu et al. (2003) identified an A-to-G transition at the intron 2/exon 3 junction of the SLC26A5 gene (604943.0001). In addition, heterozygosity for this mutation was observed in 7 (3%) of the 220 probands, suggesting the possibility of semidominant influence of the mutation in causing hearing loss. However, based on allele frequency in 8,595 controls from 12 populations (maximum minor allele frequency = 0.0156), Shearer et al. (2014) recategorized this intronic variant as benign.

In 2 sisters, aged 6 and 9 years, who had moderate to severe hearing loss, Mutai et al. (2013) identified compound heterozygous mutations in the SLC26A5 gene: a W70X substitution (604943.0003) inherited from their father and an R130S substitution (604943.0002) inherited from their mother.