Variations in Multiple Syndromic Deafness Genes Mimic Non-Syndromic Hearing Loss
| dc.authorid | Tekin, Mustafa/0000-0002-3525-7960 | |
| dc.authorid | Tokgoz Yilmaz, Suna/0000-0002-4656-099X | |
| dc.authorid | Blanton, Susan/0000-0002-5433-3439 | |
| dc.authorid | Bonyadi, Mortaza/0000-0003-3216-2947 | |
| dc.authorid | Atik, Tahir/0000-0002-1142-3872 | |
| dc.authorid | Duman, Duygu/0000-0001-7583-0349 | |
| dc.authorid | Bademci, Guney/0000-0002-4052-8833 | |
| dc.authorscopusid | 36155122500 | |
| dc.authorscopusid | 14043345500 | |
| dc.authorscopusid | 55521380900 | |
| dc.authorscopusid | 24176726600 | |
| dc.authorscopusid | 55912663900 | |
| dc.authorscopusid | 6602183751 | |
| dc.authorscopusid | 7004956280 | |
| dc.authorwosid | Tekin, Mustafa/Abg-7627-2020 | |
| dc.authorwosid | Ergin, Filiz Basak/Jep-6180-2023 | |
| dc.authorwosid | Atik, Tahir/Aay-5682-2021 | |
| dc.authorwosid | Sennaroglu, Levent/Aae-9090-2019 | |
| dc.authorwosid | Duman, Duygu/Aaf-8093-2020 | |
| dc.authorwosid | Tokgoz Yilmaz, Suna/Aaa-1420-2020 | |
| dc.authorwosid | Mahdieh, Nejat/J-1258-2014 | |
| dc.contributor.author | Bademci, G. | |
| dc.contributor.author | Cengiz, F. B. | |
| dc.contributor.author | Foster, J., II | |
| dc.contributor.author | Duman, D. | |
| dc.contributor.author | Sennaroglu, L. | |
| dc.contributor.author | Diaz-Horta, O. | |
| dc.contributor.author | Tekin, M. | |
| dc.date.accessioned | 2025-05-10T17:40:57Z | |
| dc.date.available | 2025-05-10T17:40:57Z | |
| dc.date.issued | 2016 | |
| dc.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| dc.department-temp | [Bademci, G.; Cengiz, F. B.; Foster, J., II; Diaz-Horta, O.; Menendez, I.; Guo, S.; Blanton, S. H.; Tekin, M.] Univ Miami, John P Hussman Inst Human Genom, Miami, FL 33136 USA; [Duman, D.] Ankara Univ, Sch Med, Dept Pediat, Div Genet, TR-06620 Ankara, Turkey; [Sennaroglu, L.] Hacettepe Univ, Sch Med, Dept Otolaryngol, TR-06100 Ankara, Turkey; [Atik, T.; Ozkinay, F.] Ege Univ, Sch Med, Dept Pediat, Div Genet, TR-35040 Izmir, Turkey; [Kirazli, T.] Ege Univ, Sch Med, Dept Otolaryngol, TR-35040 Izmir, Turkey; [Olgun, L.; Olgun, Y.] Bozyaka Training & Res Hosp, Dept Otorhinolaryngol, TR-35170 Izmir, Turkey; [Alper, H.] Ege Univ, Sch Med, Dept Radiol, TR-35040 Izmir, Turkey; [Loclar, I.] Koc Univ, Sch Med, TR-34450 Istanbul, Turkey; [Sennaroglu, G.; Tokgoz-Yilmaz, S.] Hacettepe Univ, Fac Hlth Sci, Dept Audiol, TR-06100 Ankara, Turkey; [Mahdieh, N.] Iran Univ Med Sci, Rajaie Cardiovasc Med & Res Ctr, Tehran, Iran; [Bonyadi, M.] Univ Tabriz, Fac Nat Sci, Ctr Excellence Biodivers, Tabriz, Iran; [Bozan, N.; Ayral, A.] Yuzuncu Yil Univ, Fac Med, Dept Otolaryngol, TR-65080 Van, Turkey; [Yildirim-Baylan, M.] Dicle Univ, Sch Med, Dept Otorhinolaryngol, TR-21280 Diyarbakir, Turkey; [Blanton, S. H.; Tekin, M.] Univ Miami, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA; [Blanton, S. H.; Tekin, M.] Univ Miami, Dept Otolaryngol, Miami, FL 33136 USA | en_US |
| dc.description | Tekin, Mustafa/0000-0002-3525-7960; Tokgoz Yilmaz, Suna/0000-0002-4656-099X; Blanton, Susan/0000-0002-5433-3439; Bonyadi, Mortaza/0000-0003-3216-2947; Atik, Tahir/0000-0002-1142-3872; Duman, Duygu/0000-0001-7583-0349; Mahdieh, Nejat/0000-0002-8614-1538; Bademci, Guney/0000-0002-4052-8833 | en_US |
| dc.description.abstract | The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies. | en_US |
| dc.description.sponsorship | National Institutes of Health [R01DC009645, R01DC012836] | en_US |
| dc.description.sponsorship | This work was supported by National Institutes of Health grants R01DC009645 and R01DC012836 to M.T. | en_US |
| dc.description.woscitationindex | Science Citation Index Expanded | |
| dc.identifier.doi | 10.1038/srep31622 | |
| dc.identifier.issn | 2045-2322 | |
| dc.identifier.pmid | 27562378 | |
| dc.identifier.scopus | 2-s2.0-84984664039 | |
| dc.identifier.scopusquality | Q1 | |
| dc.identifier.uri | https://doi.org/10.1038/srep31622 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/15366 | |
| dc.identifier.volume | 6 | en_US |
| dc.identifier.wos | WOS:000381966900001 | |
| dc.identifier.wosquality | Q2 | |
| dc.language.iso | en | en_US |
| dc.publisher | Nature Portfolio | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.title | Variations in Multiple Syndromic Deafness Genes Mimic Non-Syndromic Hearing Loss | en_US |
| dc.type | Article | en_US |