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Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
Provedor de dados: 56
Autores: Arnhold,I.J.P.; Osorio,M.G.F.; Oliveira,S.B.; Estefan,V.; Kamijo,T.; Krishnamani,M.R.S.; Cogan,J.D.; Phillips III,J.A.; Mendonça,B.B.
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...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Growth; Growth hormone; Dwarfism; Gene.
Ano: 1998
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400003