NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features.

Yukio HorikawaMayumi EnyaHiroyo MabeKei FukushimaNoriyuki TakuboMasaaki OhashiFuki IkedaKen-Ichi HashimotoHirotaka WatadaJun Takeda

Published in: Pediatric diabetes (2017)

This is the first report of NEUROD1 mutations in Japanese, who have a genetic background of intrinsically lower capacity of insulin secretion. NEUROD1-deficient diabetes appears to be low penetrant, and may occur in concert with other genetic factors.

Keyphrases

type diabetes
cardiovascular disease
glycemic control
genome wide
copy number
dna methylation
gene expression
skeletal muscle
bioinformatics analysis