Insulin receptor variants: Extending the traditional Mendelian spectrum.

doi:10.1016/j.gim.2025.101404

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Article

Insulin receptor variants: Extending the traditional Mendelian spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2025

Collin-Chavagnac Delphine, Saint-Martin Cécile, Bedidi Lotfi, Lebreton Louis, Aslanzadeh Vahid, Vigouroux Corinne, Bellanné-Chantelot Christine, Semple Robert K, Lascols Olivier, Jéru Isabelle

Abstract excerpt

PURPOSE: INSR encodes the insulin receptor, the essential entrainer of growth and metabolism to nutritional cues. INSR variants cause a spectrum of monogenic insulin resistance (IR) syndromes, namely, type A insulin resistance, Rabson-Mendenhall, and Donohue syndromes. However, to our knowledge, no large cohort studies focused on variant classification and its diagnostic value have been described. METHODS: This...

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Topics

Humans
Receptor, Insulin
Female
Male
Insulin Resistance
Antigens, CD

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Donohue Syndrome

Adult

Child

Adolescent

Cohort Studies

Loss of Function Mutation

Middle Aged

Mutation

Child, Preschool

Genetic Predisposition to Disease

Source

Open in PubMed

Identifiers

PMID: 40094207
DOI: 10.1016/j.gim.2025.101404

Genes

INSR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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