Ontology highlight
ABSTRACT:
SUBMITTER: Poon KS
PROVIDER: S-EPMC7105490 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Poon Kok-Siong KS Tan Karen Mei-Ling KM Koay Evelyn Siew-Chuan ES Sng Andrew A
Human genome variation 20200330
Glucokinase-maturity-onset diabetes of the young (GCK-MODY or MODY 2), caused by a heterozygous inactivating variant in the <i>Glucokinase</i> (<i>GCK)</i> gene, is a common form of MODY. Here, we present a case of GCK-MODY in a young Chinese boy, his sister and his father with a novel pathogenic variant in exon 8 of the <i>GCK</i> gene, NM_000162.5:c.1015del, p.(Glu339Argfs*14), which is predicted to cause a significant change in protein structure and function. ...[more]