LETTER TO JMG

A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency

G Bonapace, D Concolino, S Formicola, P Strisciuglio

Department of Pediatrics, Faculty of Medicine, University Magna Graecia of Catanzaro, 88100 Italy

Correspondence to:
Correspondence to:
Pietro Strisciuglio
MD, Department of Pediatrics, University Magna Graecia of Catanzaro, c/o Ospedale Civile A. Pugliese, Viale Pio X, 88100 Catanzaro, Italy; pstrisciuglio@unicz.it

Abbreviations: GH, growth hormone; IGFBP3, IGF binding protein 3; IGF, insulin-like growth factor; SSCP, single strand conformational polymorphism

The first 150 words of the full text of this article appear below.

The insulin-like growth factors (IGFs; somatomedins) comprise a family of peptides that play important roles in mammalian growth and development. The principal members of this family are IGF1 and IGF2. IGF1 (somatomedin C), a 70 residue basic polypeptide, mediates many of the growth promoting actions of growth hormone (GH) and has metabolic and mitogenic effects.¹ The major source of circulating IGF1 is the liver, but it is also produced in a wide variety of tissues and has endocrine and paracrine modes of action. The mature IGF1 peptide has A, B, C, and D domains with homology to insulin, and is highly conserved.² It is produced as an inactive precursor, pre-pro-IGF1, with an additional carboxyterminal E region that plays an important role in the maturation of normal IGF1 peptide. This regulatory region is obtained by alternative splicing of the last two exons. IGF1 resides on the long arm of chromosome 12 . . . [Full text of this article]

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