Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice
Autor(a) principal: | |
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Data de Publicação: | 2003 |
Outros Autores: | , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/1822/5745 |
Resumo: | Huntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenatal testing (four were done for family studies). Most referring physicians were neurologists (90.6%); 82.8% of all clinical diagnosis were confirmed, while 83.1% of those sent for exclusion were in fact excluded. In presymptomatic testing, an excess of female subjects (59.4%) was again verified; 37.5% of the consultands were found to be carriers. None of the foetuses, in four prenatal tests, were mutation carriers. One juvenile case was inherited from her mother. Our patient population is very similar to others described so far, namely in terms of mean age at onset and (CAG)n distribution, except perhaps for a higher frequency of large normal (class 2) alleles (3.7%). We also identify cases posing particular problems for genetic counselling, such as, ‘homozygosity’ that can pose a serious ethical dilemma, carriers of large normal alleles, and ‘homoallelism’ for a normal gene, which will demand further procedures and may delay results in presymptomatic and prenatal testing. |
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Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practicePolyglutamine disordersCommunity geneticsGenetic testingHomozygosityHomoallelismIntermediate allelesEthical dilemmaScience & TechnologyHuntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenatal testing (four were done for family studies). Most referring physicians were neurologists (90.6%); 82.8% of all clinical diagnosis were confirmed, while 83.1% of those sent for exclusion were in fact excluded. In presymptomatic testing, an excess of female subjects (59.4%) was again verified; 37.5% of the consultands were found to be carriers. None of the foetuses, in four prenatal tests, were mutation carriers. One juvenile case was inherited from her mother. Our patient population is very similar to others described so far, namely in terms of mean age at onset and (CAG)n distribution, except perhaps for a higher frequency of large normal (class 2) alleles (3.7%). We also identify cases posing particular problems for genetic counselling, such as, ‘homozygosity’ that can pose a serious ethical dilemma, carriers of large normal alleles, and ‘homoallelism’ for a normal gene, which will demand further procedures and may delay results in presymptomatic and prenatal testing.Nature Publishing GroupUniversidade do MinhoCosta, Maria do CarmoMagalhães, PaulaFerreirinha, FátimaGuimarães, LauraJanuário, CristinaGaspar, IsabelLoureiro, LealVale, JoséGarrett, CarolinaRegateiro, FernandoMagalhães, MarinaSousa, AldaMaciel, P.Sequeiros, Jorge2003-112003-11-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/5745eng"European journal of human genetics". ISSN 1018-4813. 11:11(Nov.2003) 872-878.1018-481310.1038/sj.ejhg.520105514571273info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:16:12Zoai:repositorium.sdum.uminho.pt:1822/5745Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:08:43.846432Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice |
title |
Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice |
spellingShingle |
Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice Costa, Maria do Carmo Polyglutamine disorders Community genetics Genetic testing Homozygosity Homoallelism Intermediate alleles Ethical dilemma Science & Technology |
title_short |
Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice |
title_full |
Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice |
title_fullStr |
Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice |
title_full_unstemmed |
Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice |
title_sort |
Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice |
author |
Costa, Maria do Carmo |
author_facet |
Costa, Maria do Carmo Magalhães, Paula Ferreirinha, Fátima Guimarães, Laura Januário, Cristina Gaspar, Isabel Loureiro, Leal Vale, José Garrett, Carolina Regateiro, Fernando Magalhães, Marina Sousa, Alda Maciel, P. Sequeiros, Jorge |
author_role |
author |
author2 |
Magalhães, Paula Ferreirinha, Fátima Guimarães, Laura Januário, Cristina Gaspar, Isabel Loureiro, Leal Vale, José Garrett, Carolina Regateiro, Fernando Magalhães, Marina Sousa, Alda Maciel, P. Sequeiros, Jorge |
author2_role |
author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade do Minho |
dc.contributor.author.fl_str_mv |
Costa, Maria do Carmo Magalhães, Paula Ferreirinha, Fátima Guimarães, Laura Januário, Cristina Gaspar, Isabel Loureiro, Leal Vale, José Garrett, Carolina Regateiro, Fernando Magalhães, Marina Sousa, Alda Maciel, P. Sequeiros, Jorge |
dc.subject.por.fl_str_mv |
Polyglutamine disorders Community genetics Genetic testing Homozygosity Homoallelism Intermediate alleles Ethical dilemma Science & Technology |
topic |
Polyglutamine disorders Community genetics Genetic testing Homozygosity Homoallelism Intermediate alleles Ethical dilemma Science & Technology |
description |
Huntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenatal testing (four were done for family studies). Most referring physicians were neurologists (90.6%); 82.8% of all clinical diagnosis were confirmed, while 83.1% of those sent for exclusion were in fact excluded. In presymptomatic testing, an excess of female subjects (59.4%) was again verified; 37.5% of the consultands were found to be carriers. None of the foetuses, in four prenatal tests, were mutation carriers. One juvenile case was inherited from her mother. Our patient population is very similar to others described so far, namely in terms of mean age at onset and (CAG)n distribution, except perhaps for a higher frequency of large normal (class 2) alleles (3.7%). We also identify cases posing particular problems for genetic counselling, such as, ‘homozygosity’ that can pose a serious ethical dilemma, carriers of large normal alleles, and ‘homoallelism’ for a normal gene, which will demand further procedures and may delay results in presymptomatic and prenatal testing. |
publishDate |
2003 |
dc.date.none.fl_str_mv |
2003-11 2003-11-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/1822/5745 |
url |
http://hdl.handle.net/1822/5745 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
"European journal of human genetics". ISSN 1018-4813. 11:11(Nov.2003) 872-878. 1018-4813 10.1038/sj.ejhg.5201055 14571273 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Nature Publishing Group |
publisher.none.fl_str_mv |
Nature Publishing Group |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132510369611776 |