Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families
| Autor: | Hanan El Ouahabi, Fatima Zahra Moufid, Hanane Latrech, Karim Ouldim, Bahia Bennani, Ihssane El Bouchikhi, Sana Abourazzak, Nadia Maazouzi, Laila Bouguenouch, Salma Benyakhlef, Lahsen El Ghadraoui, Said Trhanint |
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| Rok vydání: | 2020 |
| Předmět: |
Genetics
Sanger sequencing business.industry Disease medicine.disease Asymptomatic Maturity onset diabetes of the young HNF1A symbols.namesake Diabetes mellitus Pediatrics Perinatology and Child Health medicine symbols Missense mutation Multiplex ligation-dependent probe amplification medicine.symptom business |
| Zdroj: | International journal of pediatricsadolescent medicine. 9(2) |
| ISSN: | 2352-6467 |
| Popis: | Background Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early efficient diagnosis of their asymptomatic relatives, it is crucial to set an accurate molecular diagnosis. Hence, our aim was to determine the frequency of HNF1A and GCK genes among Moroccan-suspected MODY patients. Methods Twenty suspected MODY patients were screened for HNF1A and GCK mutations using Sanger sequencing and MLPA methods. Segregation analysis of identified mutations was performed among family members. The pathogenic nature of missense variants was predicted using bioinformatic tools. Results A total of two mutations were revealed among all patients raising the diagnostic rate to 10%. We identified a large novel GCK deletion (c.209-?_1398+?del) by MLPA in one patient and a previously reported missense substitution (c.92G > A) in HNF1A gene. Conclusion This is the first investigation to perform the molecular diagnosis of MODY suspected patients. Our findings constitute a primary contribution towards unraveling the genetic landscape involved in the pathogenesis of MODY disease in Morocco. |
| Databáze: | OpenAIRE |
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