Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study

Basit Öğe Kaydı
dc.authoridÇamtosun, Emine/0000-0002-8144-4409
dc.authoridEren, Erdal/0000-0002-1684-1053
dc.authoridSahin, Ibrahim/0000-0002-6231-0034
dc.authoridGÜVEN, AYLA/0000-0002-2026-1326
dc.authoridevren, bahri/0000-0001-7490-2937
dc.authoridErcan, Oya/0000-0001-7397-2837
dc.authoridAkinci, Aysehan/0000-0001-7267-9444
dc.authorwosidÇamtosun, Emine/AAE-3945-2020
dc.authorwosidEren, Erdal/JPK-3909-2023
dc.authorwosidSahin, Ibrahim/ABI-6050-2020
dc.authorwosidŞahin, İbrahim/HHY-8303-2022
dc.authorwosidGÜVEN, AYLA/I-8448-2019
dc.authorwosidERCAN, OYA/IUP-6356-2023
dc.authorwosidevren, bahri/ABI-6349-2020
dc.contributor.authorAkinci, Aysehan
dc.contributor.authorTurkkahraman, Doga
dc.contributor.authorTekedereli, Ibrahim
dc.contributor.authorOzer, Leyla
dc.contributor.authorEvren, Bahri
dc.contributor.authorSahin, Ibrahim
dc.contributor.authorKalkan, Tarkan
dc.date.accessioned2024-08-04T20:10:00Z
dc.date.available2024-08-04T20:10:00Z
dc.date.issued2019
dc.departmentİnönü Üniversitesien_US
dc.description.abstractObjective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity. Methods: Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Results: Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in SIM1 (p.W306C and p.Q36X), one in POMC (p.Y160H), one in PCSK1 (p.W130G fs Ter8), two in MC4R (p.D126E) and one in LEPR (p.Q4H). Additionally, two previously known variations in MC4R were identified in four patients (p.R165W in three, and p.V166I in one). Conclusion: We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4% in our cohort.en_US
dc.description.sponsorshipInonu University Research Fundation, Malatya, Turkey [TSG-2018-1137]en_US
dc.description.sponsorshipThis project was supported by Inonu University Research Fundation, Malatya, Turkey, project number: TSG-2018-1137.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2019.2019.0021
dc.identifier.endpage349en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue4en_US
dc.identifier.pmid30991789en_US
dc.identifier.scopus2-s2.0-85075805309en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage341en_US
dc.identifier.trdizinid334452en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2019.2019.0021
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/334452
dc.identifier.urihttps://hdl.handle.net/11616/92553
dc.identifier.volume11en_US
dc.identifier.wosWOS:000498876500002en_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 Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectEarlyen_US
dc.subjectonseten_US
dc.subjectsevere obesityen_US
dc.subjectnovel mutationsen_US
dc.titleNovel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Studyen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
TR-Dizin İndeksli Yayınlar Koleksiyonu