Waryah et al. (2009) reported 3 consanguineous Pakistani families with prelingual bilateral profound deafness inherited in an autosomal recessive pattern.
Ahmed et al. (2011) refined the genetic interval for DFNB74 and found a homozygous missense mutation in the MSRB3 gene (613719.0001) in affected members of 6 different consanguineous Pakistani families with autosomal recessive prelingual deafness, including the 3 ... Ahmed et al. (2011) refined the genetic interval for DFNB74 and found a homozygous missense mutation in the MSRB3 gene (613719.0001) in affected members of 6 different consanguineous Pakistani families with autosomal recessive prelingual deafness, including the 3 families previously reported by Waryah et al. (2009). They also identified a homozygous nonsense mutation in the MSRB3 gene (613719.0002) in affected members of 2 consanguineous Pakistani families with autosomal recessive prelingual deafness.