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The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
Yalçintepe, Sinem; Özgüç Çömlek, Fatma; Gürkan, Hakan; Demir, Selma; Atli, Emine Ikbal; Atli, Engin; Eker, Damla; Tütüncüler Kökenli, Filiz.
Afiliación
  • Yalçintepe S; Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
  • Özgüç Çömlek F; Trakya University Faculty of Medicine, Department of Pediatric Endocrinology, Edirne, Turkey
  • Gürkan H; Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
  • Demir S; Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
  • Atli EI; Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
  • Atli E; Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
  • Eker D; Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
  • Tütüncüler Kökenli F; Trakya University Faculty of Medicine, Department of Pediatric Endocrinology, Edirne, Turkey
J Clin Res Pediatr Endocrinol ; 13(3): 320-331, 2021 08 23.
Article en En | MEDLINE | ID: mdl-33565752
Objective: The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics of monogenic diabetes and MODY in the Trakya Region of Turkey. Methods: A panel of 20 monogenic diabetes related genes were screened in 61 cases. Illumina NextSeq550 system was used for sequencing. Pathogenicity of the variants were assessed by bioinformatics prediction software programs and segregation analyses. Results: In 29 (47.5%) cases, 31 pathogenic/likely pathogenic variants in the GCK, ABCC8, KCNJ11, HNF1A, HNF4A genes and in 11 (18%) cases, 14 variants of uncertain significance (VUS) in the GCK, RFX6, CEL, PDX1, KCNJ11, HNF1A, G6PC2, GLIS3 and KLF11 genes were identified. There were six different pathogenic/likely pathogenic variants and six different VUS which were novel. Conclusion: This is the first study including molecular studies of twenty monogenic diabetes genes in Turkish cases in the Trakya Region. The results showed that pathogenic variants in the GCK gene are the leading cause of MODY in our population. A high frequency of novel variants (32.4%-12/37) in the current study, suggests that multiple gene analysis provides accurate genetic diagnosis in MODY.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Diabetes Mellitus Tipo 2 / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: J Clin Res Pediatr Endocrinol Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Diabetes Mellitus Tipo 2 / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: J Clin Res Pediatr Endocrinol Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía