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Brazilian Journal of Medical and Biological Research
On-line version ISSN 1414-431X
ARNHOLD, I.J.P. et al. Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions. Braz J Med Biol Res [online]. 1998, vol.31, n.4, pp. 491-497. ISSN 1414-431X. http://dx.doi.org/10.1590/S0100-879X1998000400003.
Genomic DNA from 23 patients with isolated growth hormone (GH) deficiency (12 males and 11 females: heights -4.9 ± 1.4 SDS) was screened for GH gene deletions by restriction endonuclease analysis of polymerase chain reaction amplification products. Three unrelated patients had typical features of severe GH deficiency and deletions (6.7 kb in two and 7.6 kb in one) of the GH gene. The two patients with 6.7-kb deletions developed growth-attenuating anti-GH antibodies whereas the patient with the 7.6-kb deletion continued to grow with GH replacement therapy. Our finding that 3/23 (~13%) Brazilian subjects had GH gene deletions agrees with previous studies of severe isolated GH deficiency subjects in other populations. Two of three subjects (67%) with deletions developed blocking antibodies despite administration of exogenous GH at low doses. Interestingly, only 1/10 of cases with affected relatives or parental consanguinity had GH-1 gene deletions
Keywords : growth; growth hormone; dwarfism; gene.