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Article

A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY.

Diabetologia - 1 Apr 2022

Kettunen Jarno L T, Rantala Elina, Dwivedi Om P, Isomaa Bo, Sarelin Leena, Kokko Paula, Hakaste Liisa, Miettinen Päivi J, Groop Leif C, Tuomi Tiinamaija

Abstract excerpt

AIMS/HYPOTHESIS: Systematic studies on the phenotypic consequences of variants causal of HNF1A-MODY are rare. Our aim was to assess the phenotype of carriers of a single HNF1A variant and genetic and clinical factors affecting the clinical spectrum. METHODS: We conducted a family-based multigenerational study by comparing heterozygous carriers of the HNF1A p.(Gly292fs) variant with the non-carrier relatives...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34951657
DOI: 10.1007/s00125-021-05631-z
PMCID: PMC8894160

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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