Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations
This study aims to identify the genetic etiology underlying late-onset hearing loss in two unrelated Chinese families. Detailed clinical data of recruited participants of two families were collected and analyzed using next-generation sequencing, combined with Sanger sequencing and bioinformatics too...
Gespeichert in:
| Veröffentlicht in: | Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery head, and neck surgery, 2024-08, Vol.38 (8), p.679 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | chi |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 8 |
| container_start_page | 679 |
| container_title | Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery |
| container_volume | 38 |
| creator | Wang, Yueying Liang, Yue Huang, Bixue Cen, Xiaoqing Huang, Lusha Chen, Kaitian |
| description | This study aims to identify the genetic etiology underlying late-onset hearing loss in two unrelated Chinese families.
Detailed clinical data of recruited participants of two families were collected and analyzed using next-generation sequencing, combined with Sanger sequencing and bioinformatics tools.
Patients in both families manifested as down-sloping audiograms, mainly with severe mid-to-high frequency hearing loss as well as decreased speech recognition rate, both of which occurred during the second decade. Next-generation sequencing panels succeeded in identifying mutations in gene
, and three heterozygous mutations were screened out, among which c. 383T>C was the first reported mutation. In silico functional analysis and molecular modeling defined the five mutations as "pathogenic" or "likely pathogenic" according to official guideline.
The novel mutation combinations in
gene segregated with an exclusive auditory phenotype in the two pedigrees. Our results provided new data regarding the characteristic |
| doi_str_mv | 10.13201/j.issn.2096-7993.2024.08.002 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_3090947979</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3090947979</sourcerecordid><originalsourceid>FETCH-LOGICAL-p564-c6938feef7929edbec96f94e898b1477438662c266d50d002f645000534d8ce3</originalsourceid><addsrcrecordid>eNo9kEtrwzAQhHVoaUKav1B0KfRiV5ZkWXssoS9IaWlyN7K1Th1sy7XkQ_rrK-jjtMPwMcwsIdcZSzPBWXZ7TFvvh5QzUEkBIKLiMmU6ZYyfkeW_vyBr748susA5B7ggCwFZpnMml2S_NQETN3gM9AMntG0w0ylKM7XDgXbOe1qb2aOl1YnuX97edztBa9ePbh5s5AJO7ut0cLOn_RxMaGPWJTlvTOdx_XtXZPdwv988JdvXx-fN3TYZcyWTWoHQDWJTAAe0FdagGpCoQVeZLAoptFK85krZnNlYv1EyjzNyIa2uUazIzU_qOLnPGX0o-9bX2HVmwFinFAwYyAIKiOjVLzpXPdpynNo-ziz__iC-Af2bYbA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>3090947979</pqid></control><display><type>article</type><title>Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations</title><source>MEDLINE</source><source>PubMed Central</source><creator>Wang, Yueying ; Liang, Yue ; Huang, Bixue ; Cen, Xiaoqing ; Huang, Lusha ; Chen, Kaitian</creator><creatorcontrib>Wang, Yueying ; Liang, Yue ; Huang, Bixue ; Cen, Xiaoqing ; Huang, Lusha ; Chen, Kaitian</creatorcontrib><description>This study aims to identify the genetic etiology underlying late-onset hearing loss in two unrelated Chinese families.
Detailed clinical data of recruited participants of two families were collected and analyzed using next-generation sequencing, combined with Sanger sequencing and bioinformatics tools.
Patients in both families manifested as down-sloping audiograms, mainly with severe mid-to-high frequency hearing loss as well as decreased speech recognition rate, both of which occurred during the second decade. Next-generation sequencing panels succeeded in identifying mutations in gene
, and three heterozygous mutations were screened out, among which c. 383T>C was the first reported mutation. In silico functional analysis and molecular modeling defined the five mutations as "pathogenic" or "likely pathogenic" according to official guideline.
The novel mutation combinations in
gene segregated with an exclusive auditory phenotype in the two pedigrees. Our results provided new data regarding the characteristic</description><identifier>ISSN: 2096-7993</identifier><identifier>DOI: 10.13201/j.issn.2096-7993.2024.08.002</identifier><identifier>PMID: 39118504</identifier><language>chi</language><publisher>China</publisher><subject>Age of Onset ; Deafness - genetics ; East Asian People - genetics ; Hearing Loss - genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Membrane Proteins - genetics ; Mutation ; Neoplasm Proteins ; Pedigree ; Serine Endopeptidases - genetics</subject><ispartof>Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery, 2024-08, Vol.38 (8), p.679</ispartof><rights>Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39118504$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wang, Yueying</creatorcontrib><creatorcontrib>Liang, Yue</creatorcontrib><creatorcontrib>Huang, Bixue</creatorcontrib><creatorcontrib>Cen, Xiaoqing</creatorcontrib><creatorcontrib>Huang, Lusha</creatorcontrib><creatorcontrib>Chen, Kaitian</creatorcontrib><title>Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations</title><title>Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery</title><addtitle>Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi</addtitle><description>This study aims to identify the genetic etiology underlying late-onset hearing loss in two unrelated Chinese families.
Detailed clinical data of recruited participants of two families were collected and analyzed using next-generation sequencing, combined with Sanger sequencing and bioinformatics tools.
Patients in both families manifested as down-sloping audiograms, mainly with severe mid-to-high frequency hearing loss as well as decreased speech recognition rate, both of which occurred during the second decade. Next-generation sequencing panels succeeded in identifying mutations in gene
, and three heterozygous mutations were screened out, among which c. 383T>C was the first reported mutation. In silico functional analysis and molecular modeling defined the five mutations as "pathogenic" or "likely pathogenic" according to official guideline.
The novel mutation combinations in
gene segregated with an exclusive auditory phenotype in the two pedigrees. Our results provided new data regarding the characteristic</description><subject>Age of Onset</subject><subject>Deafness - genetics</subject><subject>East Asian People - genetics</subject><subject>Hearing Loss - genetics</subject><subject>Heterozygote</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation</subject><subject>Neoplasm Proteins</subject><subject>Pedigree</subject><subject>Serine Endopeptidases - genetics</subject><issn>2096-7993</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kEtrwzAQhHVoaUKav1B0KfRiV5ZkWXssoS9IaWlyN7K1Th1sy7XkQ_rrK-jjtMPwMcwsIdcZSzPBWXZ7TFvvh5QzUEkBIKLiMmU6ZYyfkeW_vyBr748susA5B7ggCwFZpnMml2S_NQETN3gM9AMntG0w0ylKM7XDgXbOe1qb2aOl1YnuX97edztBa9ePbh5s5AJO7ut0cLOn_RxMaGPWJTlvTOdx_XtXZPdwv988JdvXx-fN3TYZcyWTWoHQDWJTAAe0FdagGpCoQVeZLAoptFK85krZnNlYv1EyjzNyIa2uUazIzU_qOLnPGX0o-9bX2HVmwFinFAwYyAIKiOjVLzpXPdpynNo-ziz__iC-Af2bYbA</recordid><startdate>202408</startdate><enddate>202408</enddate><creator>Wang, Yueying</creator><creator>Liang, Yue</creator><creator>Huang, Bixue</creator><creator>Cen, Xiaoqing</creator><creator>Huang, Lusha</creator><creator>Chen, Kaitian</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>202408</creationdate><title>Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations</title><author>Wang, Yueying ; Liang, Yue ; Huang, Bixue ; Cen, Xiaoqing ; Huang, Lusha ; Chen, Kaitian</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p564-c6938feef7929edbec96f94e898b1477438662c266d50d002f645000534d8ce3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>chi</language><creationdate>2024</creationdate><topic>Age of Onset</topic><topic>Deafness - genetics</topic><topic>East Asian People - genetics</topic><topic>Hearing Loss - genetics</topic><topic>Heterozygote</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation</topic><topic>Neoplasm Proteins</topic><topic>Pedigree</topic><topic>Serine Endopeptidases - genetics</topic><toplevel>online_resources</toplevel><creatorcontrib>Wang, Yueying</creatorcontrib><creatorcontrib>Liang, Yue</creatorcontrib><creatorcontrib>Huang, Bixue</creatorcontrib><creatorcontrib>Cen, Xiaoqing</creatorcontrib><creatorcontrib>Huang, Lusha</creatorcontrib><creatorcontrib>Chen, Kaitian</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wang, Yueying</au><au>Liang, Yue</au><au>Huang, Bixue</au><au>Cen, Xiaoqing</au><au>Huang, Lusha</au><au>Chen, Kaitian</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations</atitle><jtitle>Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery</jtitle><addtitle>Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi</addtitle><date>2024-08</date><risdate>2024</risdate><volume>38</volume><issue>8</issue><spage>679</spage><pages>679-</pages><issn>2096-7993</issn><abstract>This study aims to identify the genetic etiology underlying late-onset hearing loss in two unrelated Chinese families.
Detailed clinical data of recruited participants of two families were collected and analyzed using next-generation sequencing, combined with Sanger sequencing and bioinformatics tools.
Patients in both families manifested as down-sloping audiograms, mainly with severe mid-to-high frequency hearing loss as well as decreased speech recognition rate, both of which occurred during the second decade. Next-generation sequencing panels succeeded in identifying mutations in gene
, and three heterozygous mutations were screened out, among which c. 383T>C was the first reported mutation. In silico functional analysis and molecular modeling defined the five mutations as "pathogenic" or "likely pathogenic" according to official guideline.
The novel mutation combinations in
gene segregated with an exclusive auditory phenotype in the two pedigrees. Our results provided new data regarding the characteristic</abstract><cop>China</cop><pmid>39118504</pmid><doi>10.13201/j.issn.2096-7993.2024.08.002</doi></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2096-7993 |
| ispartof | Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery, 2024-08, Vol.38 (8), p.679 |
| issn | 2096-7993 |
| language | chi |
| recordid | cdi_proquest_miscellaneous_3090947979 |
| source | MEDLINE; PubMed Central |
| subjects | Age of Onset Deafness - genetics East Asian People - genetics Hearing Loss - genetics Heterozygote High-Throughput Nucleotide Sequencing Humans Membrane Proteins - genetics Mutation Neoplasm Proteins Pedigree Serine Endopeptidases - genetics |
| title | Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-09T06%3A18%3A50IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Late-onset%20hereditary%20hearing%20loss%20caused%20by%20TMPRSS3%20compound%20heterozygous%20mutations&rft.jtitle=Lin%20chuang%20er%20bi%20yan%20hou%20tou%20jing%20wai%20ke%20za%20zhi%20=%20Journal%20of%20clinical%20otorhinolaryngology,%20head,%20and%20neck%20surgery&rft.au=Wang,%20Yueying&rft.date=2024-08&rft.volume=38&rft.issue=8&rft.spage=679&rft.pages=679-&rft.issn=2096-7993&rft_id=info:doi/10.13201/j.issn.2096-7993.2024.08.002&rft_dat=%3Cproquest_pubme%3E3090947979%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=3090947979&rft_id=info:pmid/39118504&rfr_iscdi=true |