Association of a homozygous GCK missense mutation with mild diabetes.
Antonella MarucciTommaso BiaginiRosa Di PaolaClaudia MenzaghiGrazia FiniStefano CastellanaGiuliana Marcella CardinaleTommaso MazzaVincenzo TrischittaPublished 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.