Naslov
Mutations in the Hepatocyte Nuclear Factor 1 Alpha (HNF1A), 4 Alpha (HNF4A) and 1 Beta (HNF1B) in Maturity-Onset Diabetes of the Young in Croatia

Autori
Caban, Domagoj ; Merkler, Ana ; Ljubić, Hana ; Špehar Uroić, Anita ; Krnić, Nevena ; Čavlović Naglić, Maja ; Smirčić-Duvnjak, Lea ; Kaštelan, Darko ; Sertić, Jadranka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Skup
European Human Genetics Conference

Mjesto i datum
Göteborg, Švedska, 15.06.2019. - 18.06.2019

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
MODY ; diabetes ; Sanger sequencing

Sažetak
Introduction: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by an early onset (usually before 25 years), autosomal dominant mode of inheritance and a primary defect in pancreatic β-cell function. MODY is a common form of monogenic diabetes and it may account for 1% to 2% of all diabetes cases in Europe. Many people with MODY are misdiagnosed with type 1 or type 2 diabetes. Materials and Methods: All adult subjects with diabetes onset under age of 45 years and currently older than 18 years. Other inclusion criteria are: evidence of endogenous insulin secretion (fasting or random C-peptide ≥ 0.2 nmol/L) and negative glutamic acid decarboxylase antibodies (GADA), islet cell autoantibodies (ICA) and islet tyrosine phosphatase 2 (IA2). We analysed 44 patients for HNF1A-MODY, 14 patients for HNF4A-MODY and 8 patients for HNF1B-MODY. For identification of mutations in the coding and promoter region of analyzed genes, we used the Sanger sequencing method. Results: We identified six different mutations in nine patients for subtype HNF1A-MODY. These mutations are located in exons 2, 3, 4 and 6, but the greatest number are found in exon 4, p.Gly292Argfs*25. For subtype HNF1B-MODY we identified one mutation, p.Val458Gly in exon 7. No HNF4A-MODY gene mutations were identified in any of patients analyzed. Conclusions: Correctly identifying MODY has important implications for treatment, surveillance of complications and associated extra-pancreatic disorders, and identification of affected and at- risk family members.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA