{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(4)"],"submitter":["Gao X"],"pubmed_abstract":["Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to perform extended variant analysis. We identified two novel compound heterozygous missense mutations, c. 3125 A>G p.D1042G (maternal allele) and c.5981 A>G p.E1994G (paternal allele), in the PTPRQ gene, as the cause of recessively inherited sensorineural hearing loss in family 1572. Both variants co-segregated with hearing loss phenotype in family 1572, but were absent in 74 familial patients. Heterozygosity for c. 3125 A>G was identified in two sam"],"journal":["PloS one"],"pagination":["e0124757"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4412678"],"repository":["biostudies-literature"],"pubmed_title":["Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family."],"pmcid":["PMC4412678"],"pubmed_authors":["Wang GJ","Huang SS","Guan LP","Zhang JG","Xin F","Yuan YY","Kang DY","Han MY","Xu JC","Dai P","Gao X","Zhang MG","Su Y","Chen YL"],"additional_accession":[]},"is_claimable":false,"name":"Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.","description":"Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to perform extended variant analysis. We identified two novel compound heterozygous missense mutations, c. 3125 A>G p.D1042G (maternal allele) and c.5981 A>G p.E1994G (paternal allele), in the PTPRQ gene, as the cause of recessively inherited sensorineural hearing loss in family 1572. Both variants co-segregated with hearing loss phenotype in family 1572, but were absent in 74 familial patients. Heterozygosity for c. 3125 A>G was identified in two sam","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015","modification":"2026-04-18T07:14:14.524Z","creation":"2019-03-26T23:32:20Z"},"accession":"S-EPMC4412678","cross_references":{"pubmed":["25919374"],"doi":["10.1371/journal.pone.0124757"]}}