Association of a homozygous GCK missense mutation with mild diabetes.

ABSTRACT:

Background

Homozygous inactivating GCK mutations have been repeatedly reported to cause severe hyperglycemia, presenting as permanent neonatal diabetes mellitus (PNDM). Conversely, only two cases of GCK homozygous mutations causing mild hyperglycemia have been so far described. We here report a novel GCK mutation (c.1116G>C, p.E372D), in a family with one homozygous member showing mild hyperglycemia.

Methods

GCK mutational screening was carried out by Sanger sequencing. Computational analyses to investigate pathogenicity and molecular dynamics (MD) were performed for GCK-E372D and for previously described homozygous mutations associated with mild (n = 2) or severe (n = 1) hyperglycemia, used as references.

Results

Of four mildly hyperglycemic family-members, three wer

SUBMITTER: Marucci A 

PROVIDER: S-EPMC6625123 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature