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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations
European Journal of Endocrinology, Volume 168, No. 1, Year 2013
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Description
Background: Heterozygous mutations in the IGF1 receptor (IGF1R) gene lead to partial resistance to IGF1 and contribute to intrauterine growth retardation (IUGR) with postnatal growth failure. To date, homozygous mutations of this receptor have not been described. Subject: A 13.5-year-old girl born from healthy first-cousin parents presented with severe IUGR and persistent short stature. Mild intellectual impairment, dysmorphic features, acanthosis nigricans, and cardiac malformations were also present. Methods: Auxological and endocrinological profiles were measured. All coding regions of the IGF1R gene including intron boundaries were amplified and directly sequenced. Functional characterization was performed by immunoblotting using patient's fibroblasts. Results: IGF1 level was elevated at 950 ng/ml (+7 S.D.). Fasting glucose level was normal associated with high insulin levels at baseline and during an oral glucose tolerance test. Fasting triglyceride levels were elevated. Sequencing of the IGF1R gene led to the identification of a homozygous variation in exon 2: c.119G>T (p.Arg10Leu). As a consequence, IGF1-dependent receptor autophosphorylation and downstream signaling were reduced in patient's fibroblasts. Both parents were heterozygous for the mutation. Conclusion: The homozygous mutation of the IGF1R is associated with severe IUGR, dysmorphic features, and insulin resistance, while both parents were asymptomatic heterozygous carriers of the same mutation. © 2013 European Society of Endocrinology.
Authors & Co-Authors
Gannagé-Yared, Marie Hélène
Lebanon, Beirut
Hôtel-dieu de France Hospital
Klammt, Jürgen
Germany, Leipzig
Universität Leipzig
Chouery, Éliane
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Corbani, Sandra
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Meǵarbané, Hala
Lebanon, Al Koura
University of Balamand
Abou-Ghoch, Joelle
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Choucair, Nancy
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Pfaf̈fle, Roland
Germany, Leipzig
Universität Leipzig
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
France, Paris
Institut Jérôme Lejeune
Statistics
Citations: 47
Authors: 9
Affiliations: 5
Identifiers
Doi:
10.1530/EJE-12-0701
ISSN:
08044643
e-ISSN:
1479683X
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Noncommunicable Diseases
Participants Gender
Female