Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene - 09/10/20
, E. Crevisy a, S. Baillot-Rudoni a, D. Gallegarine c, T. Jouan c, Y. Duffourd c, J.M. Petit a, b, B. Vergès a, b, P. Callier c
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Highlights |
• | Novel heterozygous missense mutation in Exon 2 of NEUROD1 gene. |
• | First description of a MODY6 from a French family. |
• | Whole exome sequencing screening for families with clinical features of MODY but without commonly implicated MODY gene mutations. |
Abstract |
Aim |
The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES).
Methods |
WES was performed in one patient with MODY, and candidate variants were confirmed in members of the immediate family by Sanger sequencing.
Results |
In the proband, a new heterozygous missense mutation (c.340A>C) was identified in the NEUROD1 gene by WES analysis and confirmed by Sanger sequencing. Additional Sanger sequencing of the proband's sister and mother revealed the same heterozygous mutation. The proband and his sister displayed typical clinical characteristics of MODY, while their mother had the same typical MODY features except for later onset. When clinical and biological profiles were established for all three patients, the severity of diabetes-related complications varied substantially from one family member to another.
Conclusion |
A novel missense mutation found in NEUROD1 was associated with MODY 6 features in a single French family.
Le texte complet de cet article est disponible en PDF.Keywords : MODY 6, Mutation, NEUROD1 gene, Whole-exome sequencing
Plan
Vol 46 - N° 5
P. 400-402 - octobre 2020 Retour au numéro
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