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| Mendeliome v1.3382 | MAFA |
Sangavi Sivagnanasundram gene: MAFA was added gene: MAFA was added to Mendeliome. Sources: Other Mode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAFA were set to 29339498 Phenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, OMIM #:147630 Review for gene: MAFA was set to GREEN Added comment: Addition of this review to Mendeliome, was only on the hyperinsulinism panel 2 families with 36 individuals with AD inheritance of diabetes mellitus or insulinomatosis (adult-onset recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumours of pancreas). WES identified the same missense MAFA mutation (p.Ser64Phe, c.191C>T) segregating with both phenotypes of insulinomatosis and diabetes in both families. The p.Ser64Phe mutation was found to impair phosphorylation within the transactivation domain of MAFA and profoundly increased MAFA protein stability under both high and low glucose concentrations in β-cell lines. In addition, the transactivation potential of p.Ser64Phe MAFA in β-cell lines was enhanced compared with wild-type MAFA. The human phenotypes associated with the p.Ser64Phe MAFA missense mutation reflect both the oncogenic capacity of MAFA and its key role in islet β-cell activity. Sources: Other |
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