Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene.

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.