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• W2111331504 abstract "Dear Editor in in ChiefUnderstanding the genetic causes of monogenic forms of diabetes is important for prognostic, fol- low up, and treatment of the patients (1). MODY (Maturity-onset diabetes of the young) is a form of monogenic diabetes clinically and genetically heterogeneous. Indeed, to-date there are at least 13 different forms of MODY, each one is due to mutations in a specific gene (MODY1-HNF4A, MODY2-GCK, MODY3-HNF1A, MODY4-IPF1, MODY5-HNF1B, MODY6-NEUROD1, MODY7- KLF11, MODY8-CEL, MODY9-PAX4, MODY10- INS, MODY11-BLK, MODY12-ABCC8 and MODY13-KCNJ11) (2). Besides, MODY is not due to a recurrent mutation (1). Molecular diagnosis of MODY is often based on mutation screening using Sanger sequencing and MLPA (Multiplex ligation-dependent probe amplification) (3). In the Tunisian population and in other populations, the genetic causes of familial early-onset diabetes remain unknown (3).In this report, we described the difficulties encountered in determining MODY genetic etiologies, after a mutation screening of PAX4 (Paired box gene 4) gene in six MODY-X Tuni- sian families, using classical methods and suggest- ing some solutions.The studied families had been previously found negative for mutations and deletions in GCK, HNF1A, HNF4A, HNF1B, INS, IPF1 and NEUROD1 genes (3). The molecular analysis was carried out after taking informed written consent from all patients and after approval of the local ethics committee.We chose to sequence PAX4 gene because of the resemblance between the clinical characteristics of the six families' probands (Table 1) and the re- ported MODY9-PAX4 patients (4, 5). Moreover, PAX4 gene encodes a transcription factor which is part of the regulatory mechanism balancing the development of pancreatic beta cells (6).The sequencing of all nine exons of PAX4 showed four common polymorphisms and no causal mutations (Table 1). Thus, the six families were negative for an eighth gene out of thirteen (reported to be responsible for MODY forms). The familial early-onset diabetes observed in these patients could be explained by mutations in other reported genes (ABCC8, KCNJ11...) or in un- known genes. This clearly shows the difficulty and time consuming to determine the molecular causes behind MODY-X using Sanger sequencing based on clinical findings. Hence, the need for fast and less expensive techniques that screen all 13 known MODY genes in one step. PCR enrich- ment in microdroplets combined with next generation sequencing, or targeted next generation sequencing assay could be used as a first step in the research of mutations in known MODY genes (7, 8). In case of mutation absence in these genes, whole exome and genome sequencing combined with high-throughput genotyping and linkage analysis could be useful to identify new genes responsible for monogenic diabetes (2). Otherwise, setting up a research strategy based on metabolomics and biomarkers might be of great interest for molecular diagnostic of MODY.The genetic etiologies of familial early-onset diabetes are still unidentified in many populations. …" @default.
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• W2111331504 date "2014-07-01" @default.
• W2111331504 modified "2023-09-24" @default.
• W2111331504 title "Challenges for molecular diagnosis of familial early-onset diabetes in unexplored populations." @default.
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