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

Hamza Dallali 1, 2 Serena Pezzilli 3, 4 Meriem Hechmi 1, 2 Om Kalthoum Sallem 5 Sahar Elouej 1, 6 Haifa Jmel 1, 7 Yosra Ben Halima 1, 8 Mariem Chargui 1 Mariem Gharbi 1 Luana Mercuri 3 Federica Alberico 3 Tommaso Mazza 3 Afaf Bahlous 9 Melika Ben Ahmed 10 Henda Jamoussi 1, 11 Abdelmajid Abid 11, 1 Vincenzo Trischitta 3, 4 Sonia Abdelhak 1, 12 Sabrina Prudente 3 Rym Kefi 1, 12, *
* Corresponding author
1 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
2 INSAT Carthage - Institut National des Sciences Appliquées et de Technologie - Carthage
3 IRCCS - Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo]
4 Università degli Studi di Roma "La Sapienza" = Sapienza University [Rome]
5 HFB - CHU Fattouma Bourguiba [Monastir]
6 AMU MED - Aix-Marseille Université - Faculté de médecine
7 Faculté des Sciences de Bizerte [Université de Carthage]
8 Faculté de Médecine de Tunis
9 Laboratoire central de biologie médicale, Institut Pasteur de Tunis
10 LR11IPT02 - Laboratoire de Transmission, Contrôle et Immunobiologie des Infections - Laboratory of Transmission, Control and Immunobiology of Infection
11 INNTA - Institut National de Nutrition et de Technologie Alimentaire (Tunis)
12 UTM - Université de Tunis El Manar
Abstract : 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.
Keywords : MODY Next-generation sequencing Targeted gene sequencing Genetic testing
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https://hal-riip.archives-ouvertes.fr/pasteur-01999628
Contributor : Abdelhakim Ben Hassine Connect in order to contact the contributor
Submitted on : Wednesday, January 30, 2019 - 11:11:38 AM
Last modification on : Monday, December 13, 2021 - 6:06:06 PM

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RIIP | RIIP_TUNIS | IRISA_UBS | UNIV-AMU | UBS

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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, Springer Verlag, 2019, 56 (5), pp.515-523. ⟨10.1007/s00592-018-01283-5⟩. ⟨pasteur-01999628⟩

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