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Article

Variable presentations of GCK gene mutation in a family.

BMJ case reports - 28 Feb 2022

Oza Chirantap Markand, Karguppikar Madhura Bharat, Khadilkar Vaman, Khadilkar Anuradha

Abstract excerpt

We describe siblings born from non-consanguineous parents, with older sibling having asymptomatic hyperglycaemia while younger sibling presented with low birth weight and persistent hyperglycaemia from first month of life. Our case, the older sibling was heterozygous for paternally inherited GCK pathogenic variant resulting in diabetes of maturity-onset in the young (MODY) manifested as mild fasting...

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Share to Diabetes Mellitus, Type 2
Share to Glucokinase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

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Identifiers

PMID: 35228227
DOI: 10.1136/bcr-2021-246699
PMCID: PMC8886375

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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