Affiliation:
1. Department of Otolaryngology, Head and Neck Surgery Peking University First Hospital Beijing China
2. Department of Central Laboratory Peking University First Hospital Beijing China
3. Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital Capital Medical University Beijing China
Abstract
AbstractBackgroundThe Protein tyrosine phosphatase receptor Q (PTPRQ) gene encodes a member of the type III receptor‐like protein tyrosine phosphatase family found in the stereocilium. Mutations in PTPRQ are mostly associated with deafness, autosomal recessive type 84 (DFNB 84), which usually results in progressive familial hearing loss.MethodsA 25‐year‐old woman and her sister, both with postlingual‐delayed progressive sensorineural hearing loss, were examined. They were from a nonconsanguineous marriage and had no family history of hearing loss. New compound heterozygous PTPRQ gene mutations, nonsense (c.90C > A, p.Y30X) and splice (c.5426 + 1G > A) mutations in two PTPRQ alleles, were identified in the two sisters and were presumably autosomal recessive. The c.90C > A (p.Y30X) mutation was mapped to exon 2 of PTPRQ (NM_001145026).ResultsThe c.90C > A mutation leads to a premature stop codon and a truncated protein. The c.5426 + 1G > A mutation leads to a truncated protein lacking the extracellular domain. Hence, both mutations were predicted to be pathogenic, leading to a deficiency of the extracellular, transmembrane, and phosphatase domains because of nonsense‐mediated mRNA degradation.ConclusionsThis study increases the spectrum of PTPRQ gene mutations that might be involved in delayed progressive autosomal recessive non‐syndromic hearing loss.
Funder
Beijing Municipal Science and Technology Commission
Natural Science Foundation of Beijing Municipality
National Natural Science Foundation of China
Subject
Microbiology (medical),Biochemistry (medical),Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy