Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing - RIIP - Réseau International des Instituts Pasteur Accéder directement au contenu
Article Dans Une Revue Acta Diabetologica Année : 2019

Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing

Résumé

AIMS: Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with autosomal dominant inheritance pattern. The diagnosis of MODY and its subtypes is based on genetic testing. Our aim was investigating MODY by means of next-generation sequencing in the Tunisian population. METHODS: We performed a targeted sequencing of 27 genes known to cause monogenic diabetes in 11 phenotypically suspected Tunisian patients. We retained genetic variants passing filters of frequency in public databases as well as their probable effects on protein structures and functions evaluated by bioinformatics prediction tools. RESULTS: Five heterozygous variants were found in four patients. They include two mutations in HNF1A and GCK that are the causative genes of the two most prevalent MODY subtypes described in the literature. Other possible mutations, including novel frameshift and splice-site variants were identified in ABCC8 gene. CONCLUSIONS: Our study is the first to investigate the clinical application of targeted next-generation sequencing for the diagnosis of MODY in Africa. The combination of this approach with a filtering/prioritization strategy made a step towards the identification of MODY mutations in the Tunisian population.

Dates et versions

pasteur-01999628 , version 1 (30-01-2019)

Identifiants

Citer

Hamza Dallali, Serena Pezzilli, Meriem Hechmi, Om Kalthoum Sallem, Sahar Elouej, et al.. Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing. Acta Diabetologica, 2019, 56 (5), pp.515-523. ⟨10.1007/s00592-018-01283-5⟩. ⟨pasteur-01999628⟩
61 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More