Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy

Detalhes bibliográficos
Autor(a) principal: Pinto, F.
Data de Publicação: 2010
Outros Autores: Pina, C., Rodrigues, M., Carrilho, I., Saraiva, J., Mendes, M., Santos, J., Martins, M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.16/2017
Resumo: Infantile Neuroaxonal Dystrophy (INAD1, MIM # 256600), is a rare autossomal recessive neurodegenerative disorder. The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. In 2006, Morgan et al described that mutations in PLA2G6 gene localized in chromosome 22 (22q13), caused INAD1. Evidence showed that a large proportion of patients with infantile neuroaxonal dystrophy have a mutation in the PLA2G6 gene. A 36-years-old pregnant woman presented for obstetric follow up. It was the second pregnancy of this healthy, nonconsanguineous couple. Their 7 year-old daughter was affected with Infantile Neuroaxonal Dystrophy. Molecular testing was done in the child and, as a causal mutation was detected, it was possible to offer a specific prenatal diagnosis. The molecular study of PLA2G6 gene by amniocentesis showed the presence of a mutation in heterozygoty and the karyotype was normal for a female foetus. To our knowledge, this is the first molecular prenatal diagnosis of INAD1 in Portugal.
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spelling Prenatal Diagnosis of Infantile Neuroaxonal DystrophyDiagnóstico Prenatal de Distrofia NeuroaxonalneuroaxonaldystrophyPLA2G6Infantile Neuroaxonal Dystrophy (INAD1, MIM # 256600), is a rare autossomal recessive neurodegenerative disorder. The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. In 2006, Morgan et al described that mutations in PLA2G6 gene localized in chromosome 22 (22q13), caused INAD1. Evidence showed that a large proportion of patients with infantile neuroaxonal dystrophy have a mutation in the PLA2G6 gene. A 36-years-old pregnant woman presented for obstetric follow up. It was the second pregnancy of this healthy, nonconsanguineous couple. Their 7 year-old daughter was affected with Infantile Neuroaxonal Dystrophy. Molecular testing was done in the child and, as a causal mutation was detected, it was possible to offer a specific prenatal diagnosis. The molecular study of PLA2G6 gene by amniocentesis showed the presence of a mutation in heterozygoty and the karyotype was normal for a female foetus. To our knowledge, this is the first molecular prenatal diagnosis of INAD1 in Portugal.ArquiMed – Edições Científicas AEFMUPRepositório Científico do Centro Hospitalar Universitário de Santo AntónioPinto, F.Pina, C.Rodrigues, M.Carrilho, I.Saraiva, J.Mendes, M.Santos, J.Martins, M.2016-12-24T01:51:20Z20102010-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2017engARQUIVOS DE MEDICINA, 24(3):89-900871-3413info: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:RCAAP2023-10-20T10:58:45Zoai:repositorio.chporto.pt:10400.16/2017Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:19.051366Repositório 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 Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy
Diagnóstico Prenatal de Distrofia Neuroaxonal
title Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy
spellingShingle Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy
Pinto, F.
neuroaxonal
dystrophy
PLA2G6
title_short Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy
title_full Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy
title_fullStr Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy
title_full_unstemmed Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy
title_sort Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy
author Pinto, F.
author_facet Pinto, F.
Pina, C.
Rodrigues, M.
Carrilho, I.
Saraiva, J.
Mendes, M.
Santos, J.
Martins, M.
author_role author
author2 Pina, C.
Rodrigues, M.
Carrilho, I.
Saraiva, J.
Mendes, M.
Santos, J.
Martins, M.
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Centro Hospitalar Universitário de Santo António
dc.contributor.author.fl_str_mv Pinto, F.
Pina, C.
Rodrigues, M.
Carrilho, I.
Saraiva, J.
Mendes, M.
Santos, J.
Martins, M.
dc.subject.por.fl_str_mv neuroaxonal
dystrophy
PLA2G6
topic neuroaxonal
dystrophy
PLA2G6
description Infantile Neuroaxonal Dystrophy (INAD1, MIM # 256600), is a rare autossomal recessive neurodegenerative disorder. The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. In 2006, Morgan et al described that mutations in PLA2G6 gene localized in chromosome 22 (22q13), caused INAD1. Evidence showed that a large proportion of patients with infantile neuroaxonal dystrophy have a mutation in the PLA2G6 gene. A 36-years-old pregnant woman presented for obstetric follow up. It was the second pregnancy of this healthy, nonconsanguineous couple. Their 7 year-old daughter was affected with Infantile Neuroaxonal Dystrophy. Molecular testing was done in the child and, as a causal mutation was detected, it was possible to offer a specific prenatal diagnosis. The molecular study of PLA2G6 gene by amniocentesis showed the presence of a mutation in heterozygoty and the karyotype was normal for a female foetus. To our knowledge, this is the first molecular prenatal diagnosis of INAD1 in Portugal.
publishDate 2010
dc.date.none.fl_str_mv 2010
2010-01-01T00:00:00Z
2016-12-24T01:51:20Z
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/10400.16/2017
url http://hdl.handle.net/10400.16/2017
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv ARQUIVOS DE MEDICINA, 24(3):89-90
0871-3413
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv ArquiMed – Edições Científicas AEFMUP
publisher.none.fl_str_mv ArquiMed – Edições Científicas AEFMUP
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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