A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers

European Journal of Medical Genetics
Magdalena SzopaMaciej T Malecki

Abstract

Until now only a few families with early onset autosomal diabetes due to the NEUROD1 gene mutations have been identified. Moreover, only some of them meet strict MODY (maturity-onset diabetes of the young) criteria. Next-generation sequencing (NGS) provides an opportunity to detect more pathogenic mutations in this gene. Here, we evaluated the segregation of the Arg103Pro mutation in the NEUROD1 gene in a pedigree in which it was detected, and described the clinical characteristics of the mutation carriers. We included 156 diabetic probands of MODY families, among them 52 patients earlier tested for GCK-MODY and/or HNF1A-MODY by Sanger sequencing with negative results. Genetic testing was performed by targeted NGS sequencing using a panel of 28 monogenic diabetes genes. As detected by NGS, one patient had the missense Arg103Pro (CGC/CCC) mutation in the gene NEUROD1 changing the amino-acid structure of the DNA binding domain of this transcription factor. We confirmed this sequence difference by Sanger sequencing. This family had previously been tested with negative results for HNF1A gene mutations. 17 additional members of this family were invited for further testing. We confirmed the presence of the mutation in 11 subjects. Se...Continue Reading

References

Jun 6, 2003·The Journal of Clinical Endocrinology and Metabolism·Vinaya SimhaAbhimanyu Garg
Feb 26, 2008·Diabetologia·S EllardUNKNOWN European Molecular Genetics Quality Network (EMQN) MODY group

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Citations

Apr 2, 2016·Endocrine Reviews·Yisheng Yang, Lawrence Chan
Oct 4, 2019·Molecular Genetics & Genomic Medicine·Gabriella de Medeiros AbreuMário Campos Junior
Feb 23, 2019·Current Diabetes Reports·Yukio Horikawa, Mayumi Enya
Aug 9, 2020·Journal of Diabetes and Its Complications·Ramasamy AarthyViswanathan Mohan
Jun 4, 2021·Frontiers in Endocrinology·Sandra HellerAlexander Kleger
Nov 28, 2017·Nutrition, Metabolism, and Cardiovascular Diseases : NMCD·S PrudenteV Trischitta

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