New results for monogenic diabetes with analysis of causative genes using next-generation sequencing: a tertiary centre experience from Turkey


KARAKILIÇ E., SAYGILI E. S., SILAN F., Onduc G. G., Agcaoglu U.

International Journal of Diabetes in Developing Countries, cilt.42, sa.4, ss.703-712, 2022 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 42 Sayı: 4
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1007/s13410-021-01027-2
  • Dergi Adı: International Journal of Diabetes in Developing Countries
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database
  • Sayfa Sayıları: ss.703-712
  • Anahtar Kelimeler: MODY, Monogenic diabetes, Neonatal diabetes, Next-generation sequencing
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Evet

Özet

© 2021, The Author(s), under exclusive licence to Research Society for Study of Diabetes in India.Background: Although monogenic diabetes accounts for a small proportion of diabetes cases, accurate diagnosis may significantly change treatment. This study aimed to contribute to knowledge about the genotype-phenotype relationship in monogenic diabetes. Methods: This study used data from a tertiary centre in Turkey. Genetic analysis outcomes for 36 patients were evaluated. The panel included 23 genes related to maturity-onset diabetes of the young (MODY), neonatal diabetes, and some genes related to hyperglycemic hypoglycemia. The next-generation sequencing method was used after DNA isolation from the peripheral blood. Results: Mutations were identified in 19 (52.8%) of 36 patients. Of the 19 mutations, 7 (36.8%) were new mutations. A total of 20 cases met the MODY clinical criteria, and mutations were identified in 11 (55%) of them. In total, nine patients had more than one mutation. Mutations were identified on the ABCC8 (n = 7), PDX1 (n = 6), GLIS3 (n = 6), ZFP57 (n = 5), GCK (n = 4), HNF1A (n = 3), GLUD (n = 3), and HNF4A, KLF11, NKX2-2, and INSR genes (n = 1 each). Conclusion: Our findings highlight a broad clinical and genetic spectrum of MODY, and genetic analysis may provide a better understanding of diabetes and improve the individualised treatment approach.