Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies
To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic resonance imaging underwent exome or whole genome seq...
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| Veröffentlicht in: | Ear, nose, & throat journal nose, & throat journal, 2024-11, Vol.103 (3_suppl), p.32S-36S |
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| container_title | Ear, nose, & throat journal |
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| creator | Yilmaz, Umit Yildirim Baylan, Müzeyyen Duman, Duygu Sineni, Claire Bademci, Güney Sizer, Bilal Tekin, Mustafa |
| description | To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic resonance imaging underwent exome or whole genome sequencing to identify underlying genetic defects. None of the individuals was diagnosed with a recognized syndrome. Four of the 11 probands were homozygous for SLC26A4 variants, c.283G>A, c.845G>A, c.1061T>C, and c.1198delT. Another proband was homozygous for a TECTA variant, c.4163G>A. Patients with variants of the SLC26A4 gene had bilateral enlarged vestibular aqueduct, bilateral incomplete partition type 2 anomaly, bilateral hypoplastic cochlea and bilateral enlarged vestibular aqueduct plus hypoplastic cochlea anomaly. Patients with the variant TECTA gene had bilateral hypoplastic cochlea. This study identified variants of SLC26A4 in 36% of probands with inner ear anomalies. While we identified a variant of the TECTA gene in a proband with cochlear hypoplasia, further studies are needed to see if TECTA variants can cause cochlear malformations. |
| doi_str_mv | 10.1177/01455613241287290 |
| format | Article |
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None of the individuals was diagnosed with a recognized syndrome. Four of the 11 probands were homozygous for SLC26A4 variants, c.283G>A, c.845G>A, c.1061T>C, and c.1198delT. Another proband was homozygous for a TECTA variant, c.4163G>A. Patients with variants of the SLC26A4 gene had bilateral enlarged vestibular aqueduct, bilateral incomplete partition type 2 anomaly, bilateral hypoplastic cochlea and bilateral enlarged vestibular aqueduct plus hypoplastic cochlea anomaly. Patients with the variant TECTA gene had bilateral hypoplastic cochlea. This study identified variants of SLC26A4 in 36% of probands with inner ear anomalies. While we identified a variant of the TECTA gene in a proband with cochlear hypoplasia, further studies are needed to see if TECTA variants can cause cochlear malformations.</description><identifier>ISSN: 0145-5613</identifier><identifier>ISSN: 1942-7522</identifier><identifier>EISSN: 1942-7522</identifier><identifier>DOI: 10.1177/01455613241287290</identifier><identifier>PMID: 39460668</identifier><language>eng</language><publisher>Los Angeles, CA: SAGE Publications</publisher><subject>Adolescent ; Child ; Child, Preschool ; Cochlea - abnormalities ; Cochlea - diagnostic imaging ; Cohort Studies ; Ear, Inner - abnormalities ; Ear, Inner - diagnostic imaging ; Exome Sequencing ; Female ; Hearing Loss, Sensorineural - genetics ; Hearing protection ; Homozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation ; Sulfate Transporters - genetics ; Temporal Bone - abnormalities ; Temporal Bone - diagnostic imaging ; Tomography, X-Ray Computed ; Turkey ; Vestibular Aqueduct - abnormalities ; Vestibular Aqueduct - diagnostic imaging ; Whole Genome Sequencing</subject><ispartof>Ear, nose, & throat journal, 2024-11, Vol.103 (3_suppl), p.32S-36S</ispartof><rights>The Author(s) 2024</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c293t-8515d90eec6c5009e3cca79f612d730ad4d542b5fc4274f5a7840637d29926683</cites><orcidid>0000-0003-2604-5015 ; 0009-0009-2032-8912</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/01455613241287290$$EPDF$$P50$$Gsage$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/01455613241287290$$EHTML$$P50$$Gsage$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,864,21966,27853,27924,27925,44945,45333</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39460668$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yilmaz, Umit</creatorcontrib><creatorcontrib>Yildirim Baylan, Müzeyyen</creatorcontrib><creatorcontrib>Duman, Duygu</creatorcontrib><creatorcontrib>Sineni, Claire</creatorcontrib><creatorcontrib>Bademci, Güney</creatorcontrib><creatorcontrib>Sizer, Bilal</creatorcontrib><creatorcontrib>Tekin, Mustafa</creatorcontrib><title>Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies</title><title>Ear, nose, & throat journal</title><addtitle>Ear Nose Throat J</addtitle><description>To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic resonance imaging underwent exome or whole genome sequencing to identify underlying genetic defects. 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While we identified a variant of the TECTA gene in a proband with cochlear hypoplasia, further studies are needed to see if TECTA variants can cause cochlear malformations.</description><subject>Adolescent</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cochlea - abnormalities</subject><subject>Cochlea - diagnostic imaging</subject><subject>Cohort Studies</subject><subject>Ear, Inner - abnormalities</subject><subject>Ear, Inner - diagnostic imaging</subject><subject>Exome Sequencing</subject><subject>Female</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Hearing protection</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Mutation</subject><subject>Sulfate Transporters - genetics</subject><subject>Temporal Bone - abnormalities</subject><subject>Temporal Bone - diagnostic imaging</subject><subject>Tomography, X-Ray Computed</subject><subject>Turkey</subject><subject>Vestibular Aqueduct - abnormalities</subject><subject>Vestibular Aqueduct - diagnostic imaging</subject><subject>Whole Genome Sequencing</subject><issn>0145-5613</issn><issn>1942-7522</issn><issn>1942-7522</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>AFRWT</sourceid><sourceid>EIF</sourceid><recordid>eNp1kM1KAzEUhYMotlYfwI0E3LiZmv80y1KrFopuqtshncm0qTOZmswgfXsztCoori7c-51zDweAS4yGGEt5izDjXGBKGCYjSRQ6An2sGEkkJ-QY9Lt70gE9cBbCBqG4EPgU9KhiAgkx6oPpLDeuscXOuhW8exrDV-2tdk2A1kENF61_s2ENJ_W69g38sM0azpwzHk61h2NXV7q0JpyDk0KXwVwc5gC83E8Xk8dk_vwwm4znSUYUbZIRxzxXyJhMZBwhZWiWaakKgUkuKdI5yzkjS15kjEhWcC1HDAkqc6IUiXHpANzsfbe-fm9NaNLKhsyUpXambkNKMcFIcMI69PoXuqlb72K6SLFoKATDkcJ7KvN1CN4U6dbbSvtdilHadZz-6Thqrg7O7bIy-bfiq9QIDPdA0Cvz8_Z_x0-744BM</recordid><startdate>20241101</startdate><enddate>20241101</enddate><creator>Yilmaz, Umit</creator><creator>Yildirim Baylan, Müzeyyen</creator><creator>Duman, Duygu</creator><creator>Sineni, Claire</creator><creator>Bademci, Güney</creator><creator>Sizer, Bilal</creator><creator>Tekin, Mustafa</creator><general>SAGE Publications</general><general>SAGE PUBLICATIONS, INC</general><scope>AFRWT</scope><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>4T-</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-2604-5015</orcidid><orcidid>https://orcid.org/0009-0009-2032-8912</orcidid></search><sort><creationdate>20241101</creationdate><title>Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies</title><author>Yilmaz, Umit ; 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None of the individuals was diagnosed with a recognized syndrome. Four of the 11 probands were homozygous for SLC26A4 variants, c.283G>A, c.845G>A, c.1061T>C, and c.1198delT. Another proband was homozygous for a TECTA variant, c.4163G>A. Patients with variants of the SLC26A4 gene had bilateral enlarged vestibular aqueduct, bilateral incomplete partition type 2 anomaly, bilateral hypoplastic cochlea and bilateral enlarged vestibular aqueduct plus hypoplastic cochlea anomaly. Patients with the variant TECTA gene had bilateral hypoplastic cochlea. This study identified variants of SLC26A4 in 36% of probands with inner ear anomalies. 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| source | MEDLINE; DOAJ Directory of Open Access Journals; EZB-FREE-00999 freely available EZB journals; SAGE Journals |
| subjects | Adolescent Child Child, Preschool Cochlea - abnormalities Cochlea - diagnostic imaging Cohort Studies Ear, Inner - abnormalities Ear, Inner - diagnostic imaging Exome Sequencing Female Hearing Loss, Sensorineural - genetics Hearing protection Homozygote Humans Magnetic Resonance Imaging Male Mutation Sulfate Transporters - genetics Temporal Bone - abnormalities Temporal Bone - diagnostic imaging Tomography, X-Ray Computed Turkey Vestibular Aqueduct - abnormalities Vestibular Aqueduct - diagnostic imaging Whole Genome Sequencing |
| title | Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies |
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