The role of IGF receptor adnormalities on IUGR short stature

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We hypothesized that mutations of insulin-like growth factor (IGF) receptor type 1 (IGF-IR) gene might predispose to short stature and associated with intrauterine growth retardation (IUGR). Therefore, we screened for abnormalities of IGF-IR gene in children with IUGR short stature.A heterozygous mutation (R709Q) changing the cleavage site from Arg-Lys-Arg-Arg to Arg-Lys-Gln-Arg was identified in a 6-year-old Japanese girl (Case I) and her mother who also had IUGR short stature (Case 2). Fibroblasts from Case 2 contained more IGF-IR proreceptor protein and less mature 6 subunit protein compared to normal fibroblasts.These findings strongly suggest that this mutation lead to failure of processing from IGF-IR proreceptor to mature IGF-IR, and caused short stature and IUGR. This study provides new and important information on the relation between IGF-IR anomalies and IUGR short stature.