Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
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 an...
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| creator | Gao, Xue Su, Yu Chen, Yu-Lan Han, Ming-Yu Yuan, Yong-Yi Xu, Jin-Cao Xin, Feng Zhang, Mei-Guang Huang, Sha-Sha Wang, Guo-Jian Kang, Dong-Yang Guan, Li-Ping Zhang, Jian-Guo Dai, Pu |
| 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 samples from unaffected Chinese individuals (656 chromosomes). Therefore, the hearing loss in this family was caused by two novel compound heterozygous mutations in PTPRQ. |
| doi_str_mv | 10.1371/journal.pone.0124757 |
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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 samples from unaffected Chinese individuals (656 chromosomes). Therefore, the hearing loss in this family was caused by two novel compound heterozygous mutations in PTPRQ.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0124757</identifier><identifier>PMID: 25919374</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Alleles ; Amino Acid Sequence ; Amino acids ; Artillery ; Asian Continental Ancestry Group - genetics ; Auditory defects ; Base Sequence ; Child ; Chromosomes ; Deafness ; Deoxyribonucleic acid ; DNA ; DNA Mutational Analysis ; Exome - genetics ; Family ; Female ; Gene sequencing ; Genes ; Genes, Recessive ; Genetic aspects ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic testing ; Hair ; Hair cells ; Hearing loss ; Hearing Loss - genetics ; Hearing protection ; Heterozygosity ; Heterozygote ; Hospitals ; Humans ; Male ; Missense mutation ; Models, Molecular ; Molecular Sequence Data ; Mutant Proteins - chemistry ; Mutation ; Mutation - genetics ; Otolaryngology ; Patients ; Pedigree ; Phenotypes ; Phosphatase ; Proteins ; Receptor-Like Protein Tyrosine Phosphatases, Class 3 - chemistry ; Receptor-Like Protein Tyrosine Phosphatases, Class 3 - genetics ; Studies ; Surgery ; Young Adult</subject><ispartof>PloS one, 2015-04, Vol.10 (4), p.e0124757-e0124757</ispartof><rights>COPYRIGHT 2015 Public Library of Science</rights><rights>2015 Gao et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2015 Gao et al 2015 Gao et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-170af3944e4a3ee7ac093f17594d5e3c640073a71881360cb7eecc6102514c263</citedby><cites>FETCH-LOGICAL-c692t-170af3944e4a3ee7ac093f17594d5e3c640073a71881360cb7eecc6102514c263</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412678/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412678/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2095,2914,23846,27903,27904,53770,53772,79347,79348</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25919374$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Alsina, Berta</contributor><creatorcontrib>Gao, Xue</creatorcontrib><creatorcontrib>Su, Yu</creatorcontrib><creatorcontrib>Chen, Yu-Lan</creatorcontrib><creatorcontrib>Han, Ming-Yu</creatorcontrib><creatorcontrib>Yuan, Yong-Yi</creatorcontrib><creatorcontrib>Xu, Jin-Cao</creatorcontrib><creatorcontrib>Xin, Feng</creatorcontrib><creatorcontrib>Zhang, Mei-Guang</creatorcontrib><creatorcontrib>Huang, Sha-Sha</creatorcontrib><creatorcontrib>Wang, Guo-Jian</creatorcontrib><creatorcontrib>Kang, Dong-Yang</creatorcontrib><creatorcontrib>Guan, Li-Ping</creatorcontrib><creatorcontrib>Zhang, Jian-Guo</creatorcontrib><creatorcontrib>Dai, Pu</creatorcontrib><title>Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family</title><title>PloS one</title><addtitle>PLoS One</addtitle><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 samples from unaffected Chinese individuals (656 chromosomes). Therefore, the hearing loss in this family was caused by two novel compound heterozygous mutations in PTPRQ.</description><subject>Alleles</subject><subject>Amino Acid Sequence</subject><subject>Amino acids</subject><subject>Artillery</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Auditory defects</subject><subject>Base Sequence</subject><subject>Child</subject><subject>Chromosomes</subject><subject>Deafness</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA Mutational Analysis</subject><subject>Exome - genetics</subject><subject>Family</subject><subject>Female</subject><subject>Gene sequencing</subject><subject>Genes</subject><subject>Genes, Recessive</subject><subject>Genetic aspects</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic testing</subject><subject>Hair</subject><subject>Hair cells</subject><subject>Hearing loss</subject><subject>Hearing Loss - genetics</subject><subject>Hearing protection</subject><subject>Heterozygosity</subject><subject>Heterozygote</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Male</subject><subject>Missense mutation</subject><subject>Models, Molecular</subject><subject>Molecular Sequence Data</subject><subject>Mutant Proteins - chemistry</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Otolaryngology</subject><subject>Patients</subject><subject>Pedigree</subject><subject>Phenotypes</subject><subject>Phosphatase</subject><subject>Proteins</subject><subject>Receptor-Like Protein Tyrosine Phosphatases, Class 3 - chemistry</subject><subject>Receptor-Like Protein Tyrosine Phosphatases, Class 3 - genetics</subject><subject>Studies</subject><subject>Surgery</subject><subject>Young Adult</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNqNk99u0zAUxiMEYmPwBggsISG4aLFjx05uJlUVY5UKG6Vwa7nOSeopiUvsdJQH4Llx_2xq0C6QL2zZv-879vE5UfSS4CGhgny4sV3bqGq4sg0MMYmZSMSj6JRkNB7wGNPHR-uT6JlzNxgnNOX8aXQSJ1k4E-w0-jPJofGmMFp5YxtkCzS_teiLXUOFxrZe2a7J0SV4aO3vTWk7h67n17Ov6HPndwqHRs5ZbZSHHN0av0Sjzltna1WhGWhwzqwhGKjWNCWaWueQaZBC46VpwAG6ULWpNs-jJ4WqHLw4zGfR94uP8_HlYHr1aTIeTQeaZ7EfEIFVQTPGgCkKIJTGGS2ISDKWJ0A1ZxgLqgRJU0I51gsBoDUnOE4I0zGnZ9Hrve-qsk4eUugk4YJTyuM0C8RkT-RW3chVa2rVbqRVRu42bFtK1XqjK5B6kWdJKoAnHNgi5ZkKI8UUx4KlDJPgdX6I1i1qyHXIdKuqnmn_pDFLWdq1ZIzEXKTB4N3BoLU_O3Be1sZpqCrVQPiK7b1FmhEWb2O9-Qd9-HUHqlThAaYpbIirt6ZyFFxYmnKy9Ro-QIWRQ210qLfChP2e4H1PEBgPv3ypOufk5Nvs_9mrH3327RG7BFX5pbNVtyu8Psj2oG5DhbVQ3CeZYLltl7tsyG27yEO7BNmr4w-6F931B_0LeL0PNA</recordid><startdate>20150428</startdate><enddate>20150428</enddate><creator>Gao, Xue</creator><creator>Su, Yu</creator><creator>Chen, Yu-Lan</creator><creator>Han, Ming-Yu</creator><creator>Yuan, Yong-Yi</creator><creator>Xu, Jin-Cao</creator><creator>Xin, Feng</creator><creator>Zhang, Mei-Guang</creator><creator>Huang, Sha-Sha</creator><creator>Wang, Guo-Jian</creator><creator>Kang, Dong-Yang</creator><creator>Guan, Li-Ping</creator><creator>Zhang, Jian-Guo</creator><creator>Dai, Pu</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20150428</creationdate><title>Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family</title><author>Gao, Xue ; Su, Yu ; Chen, Yu-Lan ; Han, Ming-Yu ; Yuan, Yong-Yi ; Xu, Jin-Cao ; Xin, Feng ; Zhang, Mei-Guang ; Huang, Sha-Sha ; Wang, Guo-Jian ; Kang, Dong-Yang ; Guan, Li-Ping ; Zhang, Jian-Guo ; Dai, Pu</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-170af3944e4a3ee7ac093f17594d5e3c640073a71881360cb7eecc6102514c263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Alleles</topic><topic>Amino Acid Sequence</topic><topic>Amino acids</topic><topic>Artillery</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Auditory defects</topic><topic>Base Sequence</topic><topic>Child</topic><topic>Chromosomes</topic><topic>Deafness</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA Mutational Analysis</topic><topic>Exome - genetics</topic><topic>Family</topic><topic>Female</topic><topic>Gene sequencing</topic><topic>Genes</topic><topic>Genes, Recessive</topic><topic>Genetic aspects</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic testing</topic><topic>Hair</topic><topic>Hair cells</topic><topic>Hearing loss</topic><topic>Hearing Loss - genetics</topic><topic>Hearing protection</topic><topic>Heterozygosity</topic><topic>Heterozygote</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Male</topic><topic>Missense mutation</topic><topic>Models, Molecular</topic><topic>Molecular Sequence Data</topic><topic>Mutant Proteins - chemistry</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Otolaryngology</topic><topic>Patients</topic><topic>Pedigree</topic><topic>Phenotypes</topic><topic>Phosphatase</topic><topic>Proteins</topic><topic>Receptor-Like Protein Tyrosine Phosphatases, Class 3 - 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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 samples from unaffected Chinese individuals (656 chromosomes). Therefore, the hearing loss in this family was caused by two novel compound heterozygous mutations in PTPRQ.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>25919374</pmid><doi>10.1371/journal.pone.0124757</doi><oa>free_for_read</oa></addata></record> |
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| ispartof | PloS one, 2015-04, Vol.10 (4), p.e0124757-e0124757 |
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| subjects | Alleles Amino Acid Sequence Amino acids Artillery Asian Continental Ancestry Group - genetics Auditory defects Base Sequence Child Chromosomes Deafness Deoxyribonucleic acid DNA DNA Mutational Analysis Exome - genetics Family Female Gene sequencing Genes Genes, Recessive Genetic aspects Genetic Association Studies Genetic Predisposition to Disease Genetic testing Hair Hair cells Hearing loss Hearing Loss - genetics Hearing protection Heterozygosity Heterozygote Hospitals Humans Male Missense mutation Models, Molecular Molecular Sequence Data Mutant Proteins - chemistry Mutation Mutation - genetics Otolaryngology Patients Pedigree Phenotypes Phosphatase Proteins Receptor-Like Protein Tyrosine Phosphatases, Class 3 - chemistry Receptor-Like Protein Tyrosine Phosphatases, Class 3 - genetics Studies Surgery Young Adult |
| title | Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-22T00%3A03%3A18IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Identification%20of%20Two%20Novel%20Compound%20Heterozygous%20PTPRQ%20Mutations%20Associated%20with%20Autosomal%20Recessive%20Hearing%20Loss%20in%20a%20Chinese%20Family&rft.jtitle=PloS%20one&rft.au=Gao,%20Xue&rft.date=2015-04-28&rft.volume=10&rft.issue=4&rft.spage=e0124757&rft.epage=e0124757&rft.pages=e0124757-e0124757&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0124757&rft_dat=%3Cgale_plos_%3EA421488611%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1676336289&rft_id=info:pmid/25919374&rft_galeid=A421488611&rft_doaj_id=oai_doaj_org_article_cbd9587e656e4b869a9a980302748401&rfr_iscdi=true |