biostudies-literatureQin YNatural Science Foundation of Beijing MunicipalityNational Natural Science Foundation of ChinaBeijing Municipal Science and Technology CommissionPeking University First Hospital Seed FoundationBeijing Natural Science Foundatione24886https://www.ebi.ac.uk/biostudies/studies/S-EPMC10220294biostudies-literatureUnknown37(7)<h4>Background</h4>The 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.<h4>Methods</h4>A 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)Journal of clinical laboratory analysisDelayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.PMC1022029471722163087286481470691812710832018SF042Z191100006619027Liu YQi YZeng ZQin YMa YZhong ZfalseDelayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.<h4>Background</h4>The 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.<h4>Methods</h4>A 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)2023-01-01T00:00:00Z2023 Apr2025-04-19T17:17:04.079Z2025-02-19T03:25:32.26ZS-EPMC102202943710657410.1002/jcla.24886