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Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions

Detalhes bibliográficos
Autor(a) principal: Arnhold,I.J.P.
Data de Publicação: 1998
Outros Autores: 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.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Brazilian Journal of Medical and Biological Research
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400003
Resumo: 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
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spelling Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletionsgrowthgrowth hormonedwarfismgeneGenomic 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 deletionsAssociação Brasileira de Divulgação Científica1998-04-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400003Brazilian Journal of Medical and Biological Research v.31 n.4 1998reponame:Brazilian Journal of Medical and Biological Researchinstname:Associação Brasileira de Divulgação Científica (ABDC)instacron:ABDC10.1590/S0100-879X1998000400003info:eu-repo/semantics/openAccessArnhold,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.eng1998-10-06T00:00:00Zoai:scielo:S0100-879X1998000400003Revistahttps://www.bjournal.org/https://old.scielo.br/oai/scielo-oai.phpbjournal@terra.com.br||bjournal@terra.com.br1414-431X0100-879Xopendoar:1998-10-06T00:00Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)false
dc.title.none.fl_str_mv Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
title Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
spellingShingle Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
Arnhold,I.J.P.
growth
growth hormone
dwarfism
gene
title_short Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
title_full Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
title_fullStr Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
title_full_unstemmed Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
title_sort Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
author Arnhold,I.J.P.
author_facet 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.
author_role author
author2 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.
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv 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.
dc.subject.por.fl_str_mv growth
growth hormone
dwarfism
gene
topic growth
growth hormone
dwarfism
gene
description 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
publishDate 1998
dc.date.none.fl_str_mv 1998-04-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400003
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400003
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0100-879X1998000400003
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
dc.source.none.fl_str_mv Brazilian Journal of Medical and Biological Research v.31 n.4 1998
reponame:Brazilian Journal of Medical and Biological Research
instname:Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
instname_str Associação Brasileira de Divulgação Científica (ABDC)
instacron_str ABDC
institution ABDC
reponame_str Brazilian Journal of Medical and Biological Research
collection Brazilian Journal of Medical and Biological Research
repository.name.fl_str_mv Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)
repository.mail.fl_str_mv bjournal@terra.com.br||bjournal@terra.com.br
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