ArticleMolecular genetics & genomic medicine2014
Two novel mutations identified in familial cases with Donohue syndrome.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 24 citations in OpenAlex.
- Clinical spectrum of extreme insulin resistance syndromes treated with rhIGF-1: A single-center experience.The Journal of clinical endocrinology and metabolism · 2026Observational
- Severe insulin resistance syndromes.The Journal of clinical investigation · 2021Review
- Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.Frontiers in endocrinology · 2021Article
- Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature.European journal of pediatrics · 2020Review
- Misfolded proinsulin impairs processing of precursor of insulin receptor and insulin signaling in β cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of theJournal of clinical research in pediatric endocrinology · 2018Article
- Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.International journal of molecular sciences · 2018Review
- Sequence variation inEMBO molecular medicine · 2017Article
- Metabolites involved in glycolysis and amino acid metabolism are altered in short children born small for gestational age.Pediatric research · 2016Article
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype-phenotype issues playing a role in the pathophysiology of DS. A female infant born to first-degree cousins Muslim Arab parents and two brothers born to first-degree cousins Druze parents presented classical features of DS with hypertrophic cardiomyopathy and died in infancy. Each patient was found homozygous for one missense mutation within the extracellular domain of the INSR gene. Western blot analysis identified the proreceptor of INSR, but not its mature subunits alpha and beta. Of 95 healthy Muslims, no heterozygous was found and of 52 healthy Druze from the same village, one was heterozygous. This study presents two novel familial mutations in the alpha subunit of the INSR which appear to impair post-translational processing of the INSR, resulting loss of its function. Both mutations cause DS with hypertrophic cardiomyopathy and early death. Identification of the causative mutation enables prevention of this devastating disease.
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