Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

• Published in: European journal of endocrinology Vol. 168; no. 1; pp. K1 - K7
• Main Authors: Gannagé-Yared, Marie-Hélène, Klammt, Jürgen, Chouery, Eliane, Corbani, Sandra, Mégarbané, Hala, Abou Ghoch, Joelle, Choucair, Nancy, Pfäffle, Roland, Mégarbané, André
• Format: Journal Article
• Language: English
• Published: Bristol BioScientifica 01.01.2013
• Subjects: Abnormalities, Multiple - genetics; Adolescent; Biological and medical sciences; Case Report; Child, Preschool; Endocrinopathies; Failure to Thrive - genetics; Female; Fetal Growth Retardation - genetics; Fundamental and applied biological sciences. Psychology; Heterozygote; Homozygote; Humans; Insulin Resistance - genetics; Intellectual Disability - genetics; Medical sciences; Models, Molecular; Receptor, IGF Type 1 - genetics; Vertebrates: endocrinology; Human; Congenital; Patient; Insulin like growth factor 1; Homozygosity; Postnatal development; Congenital disease; Gene; Malformation; Genetics; Mutation; Severe; Failure; Endocrinology

BackgroundHeterozygous 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.SubjectA 13.5-year-old girl born from h...