Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300329 |
Resumo: | Abstract Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG)27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG)36-39. In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG)n. Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG)n transmissions were unstable and not associated to parental age. |
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Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissionsCAG expansionHuntington’s diseaseintergenerational instabilityminimal prevalenceAbstract Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG)27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG)36-39. In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG)n. Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG)n transmissions were unstable and not associated to parental age.Sociedade Brasileira de Genética2019-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300329Genetics and Molecular Biology v.42 n.2 2019reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2018-0032info:eu-repo/semantics/openAccessCastilhos,Raphael Machado deSantos,José Augusto dosAugustin,Marina CoutinhoPedroso,José LuizBarsottini,OrlandoSaba,RobertaFerraz,Henrique BallalaiGodeiro Junior,ClécioVargas,Fernando ReglaSalarini,Diego ZanottiFurtado,Gabriel VasataPolese-Bonatto,MarciaRodrigues,Luiza PaulsenSena,Lucas SchenattoSaraiva-Pereira,Maria LuizaJardim,Laura Bannacheng2019-08-27T00:00:00Zoai:scielo:S1415-47572019000300329Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2019-08-27T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions |
title |
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions |
spellingShingle |
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions Castilhos,Raphael Machado de CAG expansion Huntington’s disease intergenerational instability minimal prevalence |
title_short |
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions |
title_full |
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions |
title_fullStr |
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions |
title_full_unstemmed |
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions |
title_sort |
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions |
author |
Castilhos,Raphael Machado de |
author_facet |
Castilhos,Raphael Machado de Santos,José Augusto dos Augustin,Marina Coutinho Pedroso,José Luiz Barsottini,Orlando Saba,Roberta Ferraz,Henrique Ballalai Godeiro Junior,Clécio Vargas,Fernando Regla Salarini,Diego Zanotti Furtado,Gabriel Vasata Polese-Bonatto,Marcia Rodrigues,Luiza Paulsen Sena,Lucas Schenatto Saraiva-Pereira,Maria Luiza Jardim,Laura Bannach |
author_role |
author |
author2 |
Santos,José Augusto dos Augustin,Marina Coutinho Pedroso,José Luiz Barsottini,Orlando Saba,Roberta Ferraz,Henrique Ballalai Godeiro Junior,Clécio Vargas,Fernando Regla Salarini,Diego Zanotti Furtado,Gabriel Vasata Polese-Bonatto,Marcia Rodrigues,Luiza Paulsen Sena,Lucas Schenatto Saraiva-Pereira,Maria Luiza Jardim,Laura Bannach |
author2_role |
author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Castilhos,Raphael Machado de Santos,José Augusto dos Augustin,Marina Coutinho Pedroso,José Luiz Barsottini,Orlando Saba,Roberta Ferraz,Henrique Ballalai Godeiro Junior,Clécio Vargas,Fernando Regla Salarini,Diego Zanotti Furtado,Gabriel Vasata Polese-Bonatto,Marcia Rodrigues,Luiza Paulsen Sena,Lucas Schenatto Saraiva-Pereira,Maria Luiza Jardim,Laura Bannach |
dc.subject.por.fl_str_mv |
CAG expansion Huntington’s disease intergenerational instability minimal prevalence |
topic |
CAG expansion Huntington’s disease intergenerational instability minimal prevalence |
description |
Abstract Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG)27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG)36-39. In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG)n. Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG)n transmissions were unstable and not associated to parental age. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-06-01 |
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=S1415-47572019000300329 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300329 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1678-4685-gmb-2018-0032 |
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 |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.42 n.2 2019 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122389345337344 |