Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia,Human Genome Variation

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Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
Human Genome Variation Pub Date : 2020-03-30 , DOI: 10.1038/s41439-020-0096-0
Kok-Siong Poon ₁ , Karen Mei-Ling Tan ₁ , Evelyn Siew-Chuan Koay ₂ , Andrew Sng ₃

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Glucokinase-maturity-onset diabetes of the young (GCK-MODY or MODY 2), caused by a heterozygous inactivating variant in the Glucokinase (GCK) 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 GCK gene, NM_000162.5:c.1015del, p.(Glu339Argfs*14), which is predicted to cause a significant change in protein structure and function.

更新日期：2020-04-24

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