Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/28609 http://dx.doi.org/10.1111/j.1528-1167.2006.00390.x |
Resumo: | Purpose: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozygotic female patients usually remain asymptomatic until the second or third decade of life, when they may have predominantly focal seizures, whereas hemizygotic male fetuses typically die in utero. Recent studies have also reported mutations in FLNA in male patients with PH who are cognitively normal. We describe PH in three male siblings with PH due to FLNA, severe developmental regression, and West syndrome.Methods: the study includes the three affected brothers and their parents. Video-EEG recordings and magnetic resonance image (MRI) scanning were performed on all individuals. Mutations for FLNA were detected by using polymerase chain reaction (PCR) on genomic DNA followed by single-stranded conformational polymorphism (SSCP) analysis or sequencing.Results: Two of the siblings are monozygotic twins, and all had West syndrome with hypsarrthymia on EEG. MRI of the brain revealed periventricular nodules of cerebral gray-matter intensity, typical for PH. Mutational analyses demonstrated a cytosine-to-thymidine missense mutation (c. C1286T), resulting in a threonine-to-methionine amino acid substitution in exon 9 of the FLNA gene.Conclusions: the association between PH and West syndrome, to our knowledge, has not been previously reported. Males with PH have been known to harbor FLNA mutations, although uniformly, they either show early lethality or survive and have a normal intellect. the current studies show that FLNA mutations can cause periventricular heterotopia, developmental regression, and West syndrome in male patients, suggesting that this type of FLNA mutation may contribute to severe neurologic deficits. |
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Masruha, Marcelo Rodrigues [UNIFESP]Caboclo, Luis Otávio Sales Ferreira [UNIFESP]Carrete Junior, Henrique [UNIFESP]Cendes, Iscia L.Rodrigues, Murilo Gimenes [UNIFESP]Garzon, Eliana [UNIFESP]Yacubian, Elza Márcia Targas [UNIFESP]Sakamoto, Américo Ceiki [UNIFESP]Sheen, VolneyHarney, MeganNeal, JasonSean Hill, R.Bodell, AdriaWalsh, ChristopherVilanova, Luiz Celso Pereira [UNIFESP]Universidade Federal de São Paulo (UNIFESP)Universidade Estadual de Campinas (UNICAMP)Fed Univ Espirito SantoHarvard Univ2016-01-24T12:38:14Z2016-01-24T12:38:14Z2006-01-01Epilepsia. Oxford: Blackwell Publishing, v. 47, n. 1, p. 211-214, 2006.0013-9580http://repositorio.unifesp.br/handle/11600/28609http://dx.doi.org/10.1111/j.1528-1167.2006.00390.x10.1111/j.1528-1167.2006.00390.xWOS:000234403200028Purpose: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozygotic female patients usually remain asymptomatic until the second or third decade of life, when they may have predominantly focal seizures, whereas hemizygotic male fetuses typically die in utero. Recent studies have also reported mutations in FLNA in male patients with PH who are cognitively normal. We describe PH in three male siblings with PH due to FLNA, severe developmental regression, and West syndrome.Methods: the study includes the three affected brothers and their parents. Video-EEG recordings and magnetic resonance image (MRI) scanning were performed on all individuals. Mutations for FLNA were detected by using polymerase chain reaction (PCR) on genomic DNA followed by single-stranded conformational polymorphism (SSCP) analysis or sequencing.Results: Two of the siblings are monozygotic twins, and all had West syndrome with hypsarrthymia on EEG. MRI of the brain revealed periventricular nodules of cerebral gray-matter intensity, typical for PH. Mutational analyses demonstrated a cytosine-to-thymidine missense mutation (c. C1286T), resulting in a threonine-to-methionine amino acid substitution in exon 9 of the FLNA gene.Conclusions: the association between PH and West syndrome, to our knowledge, has not been previously reported. Males with PH have been known to harbor FLNA mutations, although uniformly, they either show early lethality or survive and have a normal intellect. the current studies show that FLNA mutations can cause periventricular heterotopia, developmental regression, and West syndrome in male patients, suggesting that this type of FLNA mutation may contribute to severe neurologic deficits.Universidade Federal de São Paulo, Dept Neurol & Neurosurg, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Radiol, BR-04023900 São Paulo, BrazilUniv Estadual Campinas, Dept Med Genet, São Paulo, BrazilFed Univ Espirito Santo, Dept Pediat, Espirito Santo, BrazilHarvard Univ, Sch Med, Howard Hughes Med Inst, Beth Israel Deaconess Med Ctr,Dept Neurol, Boston, MA 02115 USAUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, BR-04023900 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Radiol, BR-04023900 São Paulo, BrazilWeb of Science211-214engBlackwell PublishingEpilepsiasubependymal heterotopiaperiventricular heterotopiafamilialWest syndromemaleMutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in malesinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/286092022-11-04 15:40:31.389metadata only accessoai:repositorio.unifesp.br:11600/28609Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-05-25T12:29:34.008136Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males |
title |
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males |
spellingShingle |
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males Masruha, Marcelo Rodrigues [UNIFESP] subependymal heterotopia periventricular heterotopia familial West syndrome male |
title_short |
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males |
title_full |
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males |
title_fullStr |
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males |
title_full_unstemmed |
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males |
title_sort |
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males |
author |
Masruha, Marcelo Rodrigues [UNIFESP] |
author_facet |
Masruha, Marcelo Rodrigues [UNIFESP] Caboclo, Luis Otávio Sales Ferreira [UNIFESP] Carrete Junior, Henrique [UNIFESP] Cendes, Iscia L. Rodrigues, Murilo Gimenes [UNIFESP] Garzon, Eliana [UNIFESP] Yacubian, Elza Márcia Targas [UNIFESP] Sakamoto, Américo Ceiki [UNIFESP] Sheen, Volney Harney, Megan Neal, Jason Sean Hill, R. Bodell, Adria Walsh, Christopher Vilanova, Luiz Celso Pereira [UNIFESP] |
author_role |
author |
author2 |
Caboclo, Luis Otávio Sales Ferreira [UNIFESP] Carrete Junior, Henrique [UNIFESP] Cendes, Iscia L. Rodrigues, Murilo Gimenes [UNIFESP] Garzon, Eliana [UNIFESP] Yacubian, Elza Márcia Targas [UNIFESP] Sakamoto, Américo Ceiki [UNIFESP] Sheen, Volney Harney, Megan Neal, Jason Sean Hill, R. Bodell, Adria Walsh, Christopher Vilanova, Luiz Celso Pereira [UNIFESP] |
author2_role |
author author author author author author author author author author author author author author |
dc.contributor.institution.none.fl_str_mv |
Universidade Federal de São Paulo (UNIFESP) Universidade Estadual de Campinas (UNICAMP) Fed Univ Espirito Santo Harvard Univ |
dc.contributor.author.fl_str_mv |
Masruha, Marcelo Rodrigues [UNIFESP] Caboclo, Luis Otávio Sales Ferreira [UNIFESP] Carrete Junior, Henrique [UNIFESP] Cendes, Iscia L. Rodrigues, Murilo Gimenes [UNIFESP] Garzon, Eliana [UNIFESP] Yacubian, Elza Márcia Targas [UNIFESP] Sakamoto, Américo Ceiki [UNIFESP] Sheen, Volney Harney, Megan Neal, Jason Sean Hill, R. Bodell, Adria Walsh, Christopher Vilanova, Luiz Celso Pereira [UNIFESP] |
dc.subject.eng.fl_str_mv |
subependymal heterotopia periventricular heterotopia familial West syndrome male |
topic |
subependymal heterotopia periventricular heterotopia familial West syndrome male |
description |
Purpose: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozygotic female patients usually remain asymptomatic until the second or third decade of life, when they may have predominantly focal seizures, whereas hemizygotic male fetuses typically die in utero. Recent studies have also reported mutations in FLNA in male patients with PH who are cognitively normal. We describe PH in three male siblings with PH due to FLNA, severe developmental regression, and West syndrome.Methods: the study includes the three affected brothers and their parents. Video-EEG recordings and magnetic resonance image (MRI) scanning were performed on all individuals. Mutations for FLNA were detected by using polymerase chain reaction (PCR) on genomic DNA followed by single-stranded conformational polymorphism (SSCP) analysis or sequencing.Results: Two of the siblings are monozygotic twins, and all had West syndrome with hypsarrthymia on EEG. MRI of the brain revealed periventricular nodules of cerebral gray-matter intensity, typical for PH. Mutational analyses demonstrated a cytosine-to-thymidine missense mutation (c. C1286T), resulting in a threonine-to-methionine amino acid substitution in exon 9 of the FLNA gene.Conclusions: the association between PH and West syndrome, to our knowledge, has not been previously reported. Males with PH have been known to harbor FLNA mutations, although uniformly, they either show early lethality or survive and have a normal intellect. the current studies show that FLNA mutations can cause periventricular heterotopia, developmental regression, and West syndrome in male patients, suggesting that this type of FLNA mutation may contribute to severe neurologic deficits. |
publishDate |
2006 |
dc.date.issued.fl_str_mv |
2006-01-01 |
dc.date.accessioned.fl_str_mv |
2016-01-24T12:38:14Z |
dc.date.available.fl_str_mv |
2016-01-24T12:38:14Z |
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.citation.fl_str_mv |
Epilepsia. Oxford: Blackwell Publishing, v. 47, n. 1, p. 211-214, 2006. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/handle/11600/28609 http://dx.doi.org/10.1111/j.1528-1167.2006.00390.x |
dc.identifier.issn.none.fl_str_mv |
0013-9580 |
dc.identifier.doi.none.fl_str_mv |
10.1111/j.1528-1167.2006.00390.x |
dc.identifier.wos.none.fl_str_mv |
WOS:000234403200028 |
identifier_str_mv |
Epilepsia. Oxford: Blackwell Publishing, v. 47, n. 1, p. 211-214, 2006. 0013-9580 10.1111/j.1528-1167.2006.00390.x WOS:000234403200028 |
url |
http://repositorio.unifesp.br/handle/11600/28609 http://dx.doi.org/10.1111/j.1528-1167.2006.00390.x |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.none.fl_str_mv |
Epilepsia |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
211-214 |
dc.publisher.none.fl_str_mv |
Blackwell Publishing |
publisher.none.fl_str_mv |
Blackwell Publishing |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
|
_version_ |
1783460298119708672 |