Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
Main Author: | |
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Publication Date: | 1998 |
Other Authors: | , , , , , , , |
Format: | Article |
Language: | eng |
Source: | Brazilian Journal of Medical and Biological Research |
Download full: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400003 |
Summary: | 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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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 |
format |
article |
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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1754302929229053952 |