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Insulin‐like growth factor I gene deletion causing intrauterine growth retardation and severe short stature
Author(s) -
Woods KA,
CamachoHübner C.,
Barter D.,
Clark AJL,
Savage MO
Publication year - 1997
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1997.tb18367.x
Subject(s) - short stature , endocrinology , medicine , growth factor , exon , growth retardation , insulin like growth factor , insulin like growth factor binding protein , endocrine system , gene , hormone , biology , genetics , pregnancy , receptor
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. □ Insulin‐like growth factor I, growth disorders, intrauterine growth retardation, growth hormone resistance, sensorineural deafness