Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants

Basit Öğe Kaydı
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.contributor.authorDemir, Selma
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Engin
dc.contributor.authorYalcin, Yelda
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorEker, Damla
dc.contributor.authorKaral, Yasemin
dc.date.accessioned2024-06-12T11:19:37Z
dc.date.available2024-06-12T11:19:37Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBackground: Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex are responsible for the disease. Therefore, consideration of TSC1/TSC2 pathogenic variations is recommended in the updated diagnostic criteria of Tuberous Sclerosis Complex. Aims: To present the TSC1/TSC2 screening results of a mixed patient population as well as possible new variants in 23 cases from 20 different families who were referred to our Genetic Diseases Diagnosis Center with the signs and symptoms of Tuberous Sclerosis Complex. Study design: Retrospective, cross-sectional study. Methods: Germline TSC1/TSC2 variants were screened in DNA samples extracted from peripheral blood samples of 23 patients from 20 unrelated families using targeted high-throughput sequencing and multiplex ligation-dependent probe amplification methods. The variants identified were classified according to ACMG 2015 guidelines. Results: In total, 5 different pathogenic/likely pathogenic changes have been defined. All these pathogenic/likely pathogenic variants were located in the TSC2 gene. Three of the pathogenic/likely pathogenic variants were novel. Two patients who are twin sisters were found to have TSC2/PKD1 contiguous deletion syndrome. One of the 3 novel variants was a mosaic in-frame deletion. We did not identify any pathogenic variants of the TSC1 gene. Conclusion: The novelty of most of the variants found, including a mosaic likely pathogenic variant, and the presence of a large genomic rearrangement, supports the importance of a comprehensive approach in analyzing TSC1/TSC2 genes. Genetic diagnosis should be performed with caution, considering the possibility of mosaic variants with low allelic fractions.en_US
dc.identifier.doi10.5152/balkanmedj.2021.21092
dc.identifier.endpage347en_US
dc.identifier.issn2146-3123
dc.identifier.issn2146-3131
dc.identifier.issue6en_US
dc.identifier.pmid34860161en_US
dc.identifier.scopus2-s2.0-85119604197en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage341en_US
dc.identifier.trdizinid481772en_US
dc.identifier.urihttps://doi.org/10.5152/balkanmedj.2021.21092
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/481772
dc.identifier.urihttps://hdl.handle.net/20.500.14551/25280
dc.identifier.volume38en_US
dc.identifier.wosWOS:000723003700004en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofBalkan Medical Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPolycystic Kidney-Diseaseen_US
dc.subjectTsc1en_US
dc.subjectIdentificationen_US
dc.subjectGenomicsen_US
dc.titleComprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variantsen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Balkan Medical Journal
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
TR-Dizin İndeksli Yayınlar Koleksiyonu