학술논문
Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
Document Type
Academic Journal
Source
The New England Journal of Medicine. Oct 31, 1996, Vol. v335 Issue n18, p1363, 5 p.
Subject
Language
ISSN
0028-4793
Abstract
A 15-year-old boy had failed to grow adequately because of a partial deletion of the insulin-like growth factor I (IGF-I) gene. The boy had persistent growth retardation prior to birth and all his life. IGF-I may be crucial for the development of a normal central nervous system, a connection borne out by his deafness and mental retardation. The boy's growth hormone concentrations reached abnormal highs and lows throughout the day, and the patient's parents and sister were quite shorter than average. They also had borderline low IGF-I concentrations. Molecular analysis established the patient's genetic defect in exons 4 and 5 of the IGF-I gene.