Ontology highlight
ABSTRACT:
SUBMITTER: Marucci A
PROVIDER: S-EPMC6625123 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Marucci Antonella A Biagini Tommaso T Di Paola Rosa R Menzaghi Claudia C Fini Grazia G Castellana Stefano S Cardinale Giuliana Marcella GM Mazza Tommaso T Trischitta Vincenzo V
Molecular genetics & genomic medicine 20190614 7
<h4>Background</h4>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.<h4>Methods</h4>GCK mutational screening was carried out by Sanger sequencing. Computatio ...[more]