Identification of the mutation p.S867P in the PTPRQ gene in an Iranian family with hearing impairment

Mutations in the PTPRQ gene coding the tyrosine phosphatase receptor type Q is known to be associated with hearing loss. Herein, we describe an Iranian family with hearing impairment. Targeted next generation sequencing analyzing different genes responsible for the hearing loss allowed the identification of mutation p.S867P in the PTPRQ gene. The mutation was also confirmed by Sanger sequencing. Consistent with the recessive inheritance of the disease, the parents were heterozygous for this mutation. Furthermore, the in silico analysis showed the pathogenicity of the mutation. Our data confirm the importance of PTPRQ in hearing development and establish a better genotype-phenotype evidence understanding the role of PTPRQ.