Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the<i>IGF1R</i>Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2-&gt;qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure

Abstract

The novel heterozygous mutation described in this study reduced IGF1R expression and represents haploinsufficiency of the IGF1R gene. Our results indicate that this mutation in the IGF1R gene leads to abnormalities in the function of IGF1R and also retards intrauterine and subsequent growth in humans.