Association of a homozygous GCK missense mutation with mild diabetes.

Antonella MarucciTommaso BiaginiRosa Di PaolaClaudia MenzaghiGrazia FiniStefano CastellanaGiuliana Marcella CardinaleTommaso MazzaVincenzo Trischitta

Published in: Molecular genetics & genomic medicine (2019)

We present the third case of homozygous GCK mutations associated with mild hyperglycemia, rather than PNDM. Our in-silico analyses support previous evidences suggesting that protein stability plays a role in determining clinical severity of GCK mutations.

Keyphrases

type diabetes
cardiovascular disease
molecular docking
intellectual disability
glycemic control
binding protein
oxidative stress
adipose tissue