Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

Autor:	Catarina I Gonçalves, Leonor Gomes, Joana T Almeida, Carla Baptista, Daniela Guelho, Miguel Melo, Isabel Dinis, Maria Manuela Estima Gomes, Joana Saraiva, Manuel C. Lemos, Maria Inês Alvelos, Sofia Martins, Luísa Barros, Diana Martins, Alice Mirante, Margarida Bastos, Carolina Moreno, Eduarda Coutinho, Mara Ventura, Maria L Sampaio, Bernardo Dias Pereira, Susana Gama-de-Sousa
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	MODY 1 endocrine system mody MODY 2 MODY 3 lcsh:Medicine 030209 endocrinology & metabolism medicine.disease_cause Maturity onset diabetes of the young Article 03 medical and health sciences 0302 clinical medicine Diabetes mellitus medicine genetics Family history 030304 developmental biology Genetics 0303 health sciences Mutation diabetes business.industry lcsh:R General Medicine medicine.disease 3. Good health HNF1A mutation business
Zdroj:	Journal of Clinical Medicine, Vol 9, Iss 1, p 288 (2020) Journal of Clinical Medicine Volume 9 Issue 1
ISSN:	2077-0383
Popis:	Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the GCK (MODY 2), HNF1A (MODY 3), and HNF4A (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population. The GCK, HNF1A, and HNF4A genes were sequenced in 46 unrelated patients that had at least two of the three classical clinical criteria for MODY (age at diagnosis, family history, and clinical presentation). The functional consequences of the mutations were predicted by bioinformatics analysis. Mutations were identified in 23 (50%) families. Twelve families had mutations in the GCK gene, eight in the HNF1A gene, and three in the HNF4A gene. These included seven novel mutations (GCK c.494T> C, GCK c.563C> G, HNF1A c.1623G> A, HNF1A c.1729C> G, HNF4A c.68delG, HNF4A c.422G> C, HNF4A c.602A> C). Mutation-positive patients were younger at the time of diagnosis when compared to mutation-negative patients (14.3 vs. 23.0 years, p = 0.011). This study further expands the spectrum of known mutations associated with MODY, and may contribute to a better understanding of this type of diabetes and a more personalized clinical management of affected individuals.
Databáze:	OpenAIRE
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