Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
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 famil...
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ri-123456789-529262023-06-29T19:35:22Z Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions Godeiro Junior, Clécio de Oliveira Castilhos, Raphael Machado de Santos, José Augusto dos Augustin, Marina Coutinho Augustin Pedroso, José Luiz Barsottini, Orlando Saba, Roberta Ferraz, Henrique Ballalai 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 0000-0002-4312-1633 CAG expansion huntington’s disease intergenerational instability minimal prevalence 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. 2023-06-29T19:35:00Z 2023-06-29T19:35:00Z 2019 article GODEIRO JUNIOR, Clécio de Oliveira et al. Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions. Genetics And Molecular Biology, [S.L.], v. 42, n. 2, p. 329-336, jun. 2019. FapUNIFESP (SciELO). http://dx.doi.org/10.1590/1678-4685-gmb-2018-0032. Disponível em: https://www.scielo.br/j/gmb/a/zktFDSFpNLgb3CQQWLLs98C/?lang=en#. Acesso em: 27 jun. 2023. https://repositorio.ufrn.br/handle/123456789/52926 https://doi.org/10.1590/1678-4685-GMB-2018-0032 en Attribution 3.0 Brazil http://creativecommons.org/licenses/by/3.0/br/ application/pdf SciELO |
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| language |
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| topic |
CAG expansion huntington’s disease intergenerational instability minimal prevalence |
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CAG expansion huntington’s disease intergenerational instability minimal prevalence Godeiro Junior, Clécio de Oliveira Castilhos, Raphael Machado de Santos, José Augusto dos Augustin, Marina Coutinho Augustin Pedroso, José Luiz Barsottini, Orlando Saba, Roberta Ferraz, Henrique Ballalai 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 Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions |
| description |
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. |
| author2 |
0000-0002-4312-1633 |
| author_facet |
0000-0002-4312-1633 Godeiro Junior, Clécio de Oliveira Castilhos, Raphael Machado de Santos, José Augusto dos Augustin, Marina Coutinho Augustin Pedroso, José Luiz Barsottini, Orlando Saba, Roberta Ferraz, Henrique Ballalai 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 |
| format |
article |
| author |
Godeiro Junior, Clécio de Oliveira Castilhos, Raphael Machado de Santos, José Augusto dos Augustin, Marina Coutinho Augustin Pedroso, José Luiz Barsottini, Orlando Saba, Roberta Ferraz, Henrique Ballalai 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_sort |
Godeiro Junior, Clécio de Oliveira |
| title |
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions |
| 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 |
| publisher |
SciELO |
| publishDate |
2023 |
| url |
https://repositorio.ufrn.br/handle/123456789/52926 https://doi.org/10.1590/1678-4685-GMB-2018-0032 |
| work_keys_str_mv |
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