Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes
Autor(a) principal: | |
---|---|
Data de Publicação: | 2011 |
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/10400.17/2335 |
Resumo: | Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and Methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II. |
id |
RCAP_4db32d49dd5bb7243e7460ee70a9b443 |
---|---|
oai_identifier_str |
oai:repositorio.chlc.min-saude.pt:10400.17/2335 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine PhenotypesMutationPhenotypeMethyl-CpG-Binding Protein 2/*geneticsRett Syndrome/geneticsRett Syndrome/diagnosisRett Syndrome/physiopathologyHumansChildChild, PreschoolAdolescentHDE NEU PEDBackground: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and Methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II.Elsevier Inc.Repositório do Centro Hospitalar Universitário de Lisboa Central, EPETemudo, TSantos, MRamos, EDias, KVieira, JPMoreira, ACalado, ECarrilho, IOliveira, GLevy, ABarbot, CFonseca, MCabral, ACabral, PMonteiro, JBorges, LGomes, RMira, GPereira, SASantos, MFernandes, AEpplen, JTSequeiros, JMaciel, P2015-11-11T11:41:16Z20112011-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2335engBrain Develop. 2011 Jan; 33 (1): 69-76info: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:RCAAP2023-03-10T09:36:28Zoai:repositorio.chlc.min-saude.pt:10400.17/2335Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:19:41.788323Repositório 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 |
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes |
title |
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes |
spellingShingle |
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes Temudo, T Mutation Phenotype Methyl-CpG-Binding Protein 2/*genetics Rett Syndrome/genetics Rett Syndrome/diagnosis Rett Syndrome/physiopathology Humans Child Child, Preschool Adolescent HDE NEU PED |
title_short |
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes |
title_full |
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes |
title_fullStr |
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes |
title_full_unstemmed |
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes |
title_sort |
Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes |
author |
Temudo, T |
author_facet |
Temudo, T Santos, M Ramos, E Dias, K Vieira, JP Moreira, A Calado, E Carrilho, I Oliveira, G Levy, A Barbot, C Fonseca, M Cabral, A Cabral, P Monteiro, J Borges, L Gomes, R Mira, G Pereira, SA Fernandes, A Epplen, JT Sequeiros, J Maciel, P |
author_role |
author |
author2 |
Santos, M Ramos, E Dias, K Vieira, JP Moreira, A Calado, E Carrilho, I Oliveira, G Levy, A Barbot, C Fonseca, M Cabral, A Cabral, P Monteiro, J Borges, L Gomes, R Mira, G Pereira, SA Fernandes, A Epplen, JT Sequeiros, J Maciel, P |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Temudo, T Santos, M Ramos, E Dias, K Vieira, JP Moreira, A Calado, E Carrilho, I Oliveira, G Levy, A Barbot, C Fonseca, M Cabral, A Cabral, P Monteiro, J Borges, L Gomes, R Mira, G Pereira, SA Santos, M Fernandes, A Epplen, JT Sequeiros, J Maciel, P |
dc.subject.por.fl_str_mv |
Mutation Phenotype Methyl-CpG-Binding Protein 2/*genetics Rett Syndrome/genetics Rett Syndrome/diagnosis Rett Syndrome/physiopathology Humans Child Child, Preschool Adolescent HDE NEU PED |
topic |
Mutation Phenotype Methyl-CpG-Binding Protein 2/*genetics Rett Syndrome/genetics Rett Syndrome/diagnosis Rett Syndrome/physiopathology Humans Child Child, Preschool Adolescent HDE NEU PED |
description |
Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and Methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011 2011-01-01T00:00:00Z 2015-11-11T11:41:16Z |
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/10400.17/2335 |
url |
http://hdl.handle.net/10400.17/2335 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Brain Develop. 2011 Jan; 33 (1): 69-76 |
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 |
Elsevier Inc. |
publisher.none.fl_str_mv |
Elsevier Inc. |
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 |
repository.mail.fl_str_mv |
|
_version_ |
1799131293743579136 |