Abstract
The first human case of a homozygous molecular defect in the gene encoding insulin-like growth factor I (IGF-I) is described. The patient was a 15-year-old boy from a consanguineous pedigree who presented with severe intrauterine growth failure, sensorineural deafness and mild mental retardation. Endocrine evaluation of the growth hormone (GH)-IGF-I axis revealed elevated GH secretion, undetectable serum IGF-I and normal serum IGF-binding protein-3, acid-labile subunit, and GH-binding activity. Analysis of the IGF-I gene revealed a homozygous partial IGF-I gene deletion involving exons 4 and 5, which encodes a severely truncated mature IGF-I peptide. This patient demonstrates that complete disruption of the IGF-I gene in man is compatible with life, and indicates a major role for IGF-I in human fetal growth. In addition, his neurological abnormalities suggest that IGF-I may be involved in central nervous system development.
Original language | English (US) |
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Pages (from-to) | 39-45 |
Number of pages | 7 |
Journal | Acta Paediatrica, International Journal of Paediatrics, Supplement |
Volume | 86 |
Issue number | 423 |
State | Published - 1997 |
Externally published | Yes |
Keywords
- Growth disorders
- Growth hormone resistance
- Insulin-like growth factor 1
- Intrauterine growth retardation
- Sensorineural deafness
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health