Scopus
YÖKSİS Eşleşti
Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene
Diabetes Research and Clinical Practice · Kasım 2023
YÖKSİS Kayıtları
Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene
Diabetes Res Clin Pract · 2023 SCI
DOÇENT MUAMMER BÜYÜKİNAN →
Makale Bilgileri
DergiDiabetes Research and Clinical Practice
Yayın TarihiKasım 2023
Cilt / Sayfa205
Scopus ID2-s2.0-85174630751
Özet
Aim: We aimed to investigate molecular genetic basis of monogenic diabetes (DM) and novel responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES). Methods: A hundred cases presenting with clinical findings and a family history of monogenic DM were included in the study. Molecular analysis was performed using an NGS panel including 14 genes. Following targeted NGS, WES was planned in cases in whom no variant was detected. Results: Thirty different disease-causing variants in seven different genes were detected in thirty-five (35 %) cases with targeted NGS approach. Most common pathogenic variant was found in GCK gene in 25 (25 %) cases. Four different variants were detected in 4 (4 %) patients in ABCC8 gene. In 45 of 65 cases; WES analyses were done. A heterozygous c.2635C > T(p.Gln879Ter) variant was detected in IFIH1 gene in a patient with incidental hyperglycemia. In the segregation analysis affected mother was shown to be heterozygous for the same variant. Conclusion: Molecular etiology was determined in 35 % cases with the NGS targeted panel. Seventeen novel variants in monogenic DM genes have been identified. A candidate gene determined by WES analysis in a case that could not be diagnosed with NGS panel in this study.
Yazarlar (12)
1
Damla Goksen
2
Ferda Evin
ORCID: 0000-0001-7169-890X
3
Esra Isik
ORCID: 0000-0003-0657-2408
4
Samim Ozen
5
Tahir Atik
6
Ferda Özkınay
7
Nese Akcan
8
B. Ozkan
9
Muammer Buyukinan
10
Mehmet Nuri Ozbek
11
Sukran Darcan
ORCID: 0000-0002-1330-6397
12
Huseyin Onay
Anahtar Kelimeler
IFIH1
Monogenic diabetes
Targeted next generation sequencing analysis (NGS)
Whole exome sequencing (WES)
Kurumlar
Dr. Behçet Uz Children Research and Training Hospital
Izmir Turkey
Ege University Medical School
Izmir Turkey
Konya Meram Training and Research Hospital
Konya Turkey
Mardin Artuklu University
Mardin Turkey
Multigen Genetic Diseases Diagnosis Center
Izmir Turkey
Yakın Doğu Üniversitesi
Nicosia Cyprus