Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study
View/ Open
Date
2019Author
Akinci, Aysehan
Turkkahraman, Doga
Tekedereli, Ibrahim
Ozer, Leyla
Evren, Bahri
Sahin, Ibrahim
Kalkan, Tarkan
Curek, Yusuf
Camtosun, Emine
Doger, Esra
Bideci, Aysun
Guven, Ayla
Eren, Erdal
Sangun, Ozlem
Cayir, Atilla
Bilir, Pelin
Ergur, Ayca Torel
Ercan, Oya
Metadata
Show full item recordAbstract
Objective: 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.
URI
http://cms.galenos.com.tr/Uploads/Article_27366/JCRPE-11-341-En.pdfhttp://hdl.handle.net/11727/4860
Collections
- PubMed Açık Erişimli Yayınlar [1472]
- PubMed İndeksli Yayınlar Koleksiyonu [2382]
- Scopus İndeksli Yayınlar Koleksiyonu [3057]
- Tıp Fakültesi / Faculty of Medicine [6041]
- TR-Dizin Açık Erişimli Yayınlar [896]
- TR-Dizin İndeksli Yayınlar Koleksiyonu [984]
- Wos Açık Erişimli Yayınlar [2402]
- Wos İndeksli Yayınlar Koleksiyonu [4123]