Clinical features of facioscapulohumeral muscular dystrophy 2
- Autores
- De Greef, J. C.; Lemmers, R. J. L. F.; Camaño, P.; Day, J. W.; Sacconi, S.; Dunand, M.; Van Engelen, B. G. M.; Kiuru Enari, S.; Padberg, G. W.; Rosa, Alberto Luis; Desnuelle, C.; Spuler, S.; Tarnopolsky, M.; Venance, S. L.; Frants, R. R.; Van Der Maarel, S. M.; Tawil, R.
- Año de publicación
- 2010
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Objective: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4Z4 contractions (FSHD1). This commonality suggests that a change in D4Z4 chromatin structure unifies FSHD1 and FSHD2. The aim of our study was to critically evaluate the clinical features in patients with FSHD2 in order to establish whether these patients are phenotypically identical to FSHD1 and to establish the effects of the (epi-) genotype on the phenotype. Methods: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. Results: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. Conclusions: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. METHODS: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. RESULTS: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. CONCLUSIONS: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process.
Fil: De Greef, J. C.. Leiden University; Países Bajos
Fil: Lemmers, R. J. L. F.. Leiden University; Países Bajos
Fil: Camaño, P.. Donostia International Physic Center; España. Instituto de Salud Carlos III; España
Fil: Day, J. W.. University of Minnesota; Estados Unidos
Fil: Sacconi, S.. Centre National de la Recherche Scientifique; Francia. Universite Nice; Francia
Fil: Dunand, M.. Centre Hospitalier Universitaire Vaudois; Suiza. Universite de Lausanne; Suiza
Fil: Van Engelen, B. G. M.. Radboud Universiteit Nijmegen; Países Bajos
Fil: Kiuru Enari, S.. Helsinki University Central Hospital; Finlandia
Fil: Padberg, G. W.. Radboud Universiteit Nijmegen; Países Bajos
Fil: Rosa, Alberto Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Fundación Allende; Argentina. Sanatorio Allende; Argentina
Fil: Desnuelle, C.. Centre National de la Recherche Scientifique; Francia. Universite Nice; Francia
Fil: Spuler, S.. Charité University Medicine Berlin; Alemania
Fil: Tarnopolsky, M.. Mc Master University; Canadá
Fil: Venance, S. L.. London Health Sciences Centre; Canadá
Fil: Frants, R. R.. Leiden University; Países Bajos
Fil: Van Der Maarel, S. M.. Leiden University; Países Bajos
Fil: Tawil, R.. University of Rochester Medical Center; Estados Unidos - Materia
-
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
LOCUS 4Q35
D4Z4 REPEAT INDEPENDENT CONTRACTION
FSHD2 - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/189153
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Clinical features of facioscapulohumeral muscular dystrophy 2De Greef, J. C.Lemmers, R. J. L. F.Camaño, P.Day, J. W.Sacconi, S.Dunand, M.Van Engelen, B. G. M.Kiuru Enari, S.Padberg, G. W.Rosa, Alberto LuisDesnuelle, C.Spuler, S.Tarnopolsky, M.Venance, S. L.Frants, R. R.Van Der Maarel, S. M.Tawil, R.FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHYLOCUS 4Q35D4Z4 REPEAT INDEPENDENT CONTRACTIONFSHD2https://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Objective: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4Z4 contractions (FSHD1). This commonality suggests that a change in D4Z4 chromatin structure unifies FSHD1 and FSHD2. The aim of our study was to critically evaluate the clinical features in patients with FSHD2 in order to establish whether these patients are phenotypically identical to FSHD1 and to establish the effects of the (epi-) genotype on the phenotype. Methods: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. Results: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. Conclusions: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. METHODS: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. RESULTS: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. CONCLUSIONS: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process.Fil: De Greef, J. C.. Leiden University; Países BajosFil: Lemmers, R. J. L. F.. Leiden University; Países BajosFil: Camaño, P.. Donostia International Physic Center; España. Instituto de Salud Carlos III; EspañaFil: Day, J. W.. University of Minnesota; Estados UnidosFil: Sacconi, S.. Centre National de la Recherche Scientifique; Francia. Universite Nice; FranciaFil: Dunand, M.. Centre Hospitalier Universitaire Vaudois; Suiza. Universite de Lausanne; SuizaFil: Van Engelen, B. G. M.. Radboud Universiteit Nijmegen; Países BajosFil: Kiuru Enari, S.. Helsinki University Central Hospital; FinlandiaFil: Padberg, G. W.. Radboud Universiteit Nijmegen; Países BajosFil: Rosa, Alberto Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Fundación Allende; Argentina. Sanatorio Allende; ArgentinaFil: Desnuelle, C.. Centre National de la Recherche Scientifique; Francia. Universite Nice; FranciaFil: Spuler, S.. Charité University Medicine Berlin; AlemaniaFil: Tarnopolsky, M.. Mc Master University; CanadáFil: Venance, S. L.. London Health Sciences Centre; CanadáFil: Frants, R. R.. Leiden University; Países BajosFil: Van Der Maarel, S. M.. Leiden University; Países BajosFil: Tawil, R.. University of Rochester Medical Center; Estados UnidosLippincott Williams2010-10-26info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/189153De Greef, J. C.; Lemmers, R. J. L. F.; Camaño, P.; Day, J. W.; Sacconi, S.; et al.; Clinical features of facioscapulohumeral muscular dystrophy 2; Lippincott Williams; Neurology; 75; 17; 26-10-2010; 1548-15540028-38781526-632XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://n.neurology.org/content/75/17/1548info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0b013e3181f96175info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:01:44Zoai:ri.conicet.gov.ar:11336/189153instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:01:44.294CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Clinical features of facioscapulohumeral muscular dystrophy 2 |
title |
Clinical features of facioscapulohumeral muscular dystrophy 2 |
spellingShingle |
Clinical features of facioscapulohumeral muscular dystrophy 2 De Greef, J. C. FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY LOCUS 4Q35 D4Z4 REPEAT INDEPENDENT CONTRACTION FSHD2 |
title_short |
Clinical features of facioscapulohumeral muscular dystrophy 2 |
title_full |
Clinical features of facioscapulohumeral muscular dystrophy 2 |
title_fullStr |
Clinical features of facioscapulohumeral muscular dystrophy 2 |
title_full_unstemmed |
Clinical features of facioscapulohumeral muscular dystrophy 2 |
title_sort |
Clinical features of facioscapulohumeral muscular dystrophy 2 |
dc.creator.none.fl_str_mv |
De Greef, J. C. Lemmers, R. J. L. F. Camaño, P. Day, J. W. Sacconi, S. Dunand, M. Van Engelen, B. G. M. Kiuru Enari, S. Padberg, G. W. Rosa, Alberto Luis Desnuelle, C. Spuler, S. Tarnopolsky, M. Venance, S. L. Frants, R. R. Van Der Maarel, S. M. Tawil, R. |
author |
De Greef, J. C. |
author_facet |
De Greef, J. C. Lemmers, R. J. L. F. Camaño, P. Day, J. W. Sacconi, S. Dunand, M. Van Engelen, B. G. M. Kiuru Enari, S. Padberg, G. W. Rosa, Alberto Luis Desnuelle, C. Spuler, S. Tarnopolsky, M. Venance, S. L. Frants, R. R. Van Der Maarel, S. M. Tawil, R. |
author_role |
author |
author2 |
Lemmers, R. J. L. F. Camaño, P. Day, J. W. Sacconi, S. Dunand, M. Van Engelen, B. G. M. Kiuru Enari, S. Padberg, G. W. Rosa, Alberto Luis Desnuelle, C. Spuler, S. Tarnopolsky, M. Venance, S. L. Frants, R. R. Van Der Maarel, S. M. Tawil, R. |
author2_role |
author author author author author author author author author author author author author author author author |
dc.subject.none.fl_str_mv |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY LOCUS 4Q35 D4Z4 REPEAT INDEPENDENT CONTRACTION FSHD2 |
topic |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY LOCUS 4Q35 D4Z4 REPEAT INDEPENDENT CONTRACTION FSHD2 |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
Objective: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4Z4 contractions (FSHD1). This commonality suggests that a change in D4Z4 chromatin structure unifies FSHD1 and FSHD2. The aim of our study was to critically evaluate the clinical features in patients with FSHD2 in order to establish whether these patients are phenotypically identical to FSHD1 and to establish the effects of the (epi-) genotype on the phenotype. Methods: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. Results: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. Conclusions: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. METHODS: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. RESULTS: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. CONCLUSIONS: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. Fil: De Greef, J. C.. Leiden University; Países Bajos Fil: Lemmers, R. J. L. F.. Leiden University; Países Bajos Fil: Camaño, P.. Donostia International Physic Center; España. Instituto de Salud Carlos III; España Fil: Day, J. W.. University of Minnesota; Estados Unidos Fil: Sacconi, S.. Centre National de la Recherche Scientifique; Francia. Universite Nice; Francia Fil: Dunand, M.. Centre Hospitalier Universitaire Vaudois; Suiza. Universite de Lausanne; Suiza Fil: Van Engelen, B. G. M.. Radboud Universiteit Nijmegen; Países Bajos Fil: Kiuru Enari, S.. Helsinki University Central Hospital; Finlandia Fil: Padberg, G. W.. Radboud Universiteit Nijmegen; Países Bajos Fil: Rosa, Alberto Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Fundación Allende; Argentina. Sanatorio Allende; Argentina Fil: Desnuelle, C.. Centre National de la Recherche Scientifique; Francia. Universite Nice; Francia Fil: Spuler, S.. Charité University Medicine Berlin; Alemania Fil: Tarnopolsky, M.. Mc Master University; Canadá Fil: Venance, S. L.. London Health Sciences Centre; Canadá Fil: Frants, R. R.. Leiden University; Países Bajos Fil: Van Der Maarel, S. M.. Leiden University; Países Bajos Fil: Tawil, R.. University of Rochester Medical Center; Estados Unidos |
description |
Objective: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4Z4 contractions (FSHD1). This commonality suggests that a change in D4Z4 chromatin structure unifies FSHD1 and FSHD2. The aim of our study was to critically evaluate the clinical features in patients with FSHD2 in order to establish whether these patients are phenotypically identical to FSHD1 and to establish the effects of the (epi-) genotype on the phenotype. Methods: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. Results: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. Conclusions: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. METHODS: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. RESULTS: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. CONCLUSIONS: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-10-26 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/189153 De Greef, J. C.; Lemmers, R. J. L. F.; Camaño, P.; Day, J. W.; Sacconi, S.; et al.; Clinical features of facioscapulohumeral muscular dystrophy 2; Lippincott Williams; Neurology; 75; 17; 26-10-2010; 1548-1554 0028-3878 1526-632X CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/189153 |
identifier_str_mv |
De Greef, J. C.; Lemmers, R. J. L. F.; Camaño, P.; Day, J. W.; Sacconi, S.; et al.; Clinical features of facioscapulohumeral muscular dystrophy 2; Lippincott Williams; Neurology; 75; 17; 26-10-2010; 1548-1554 0028-3878 1526-632X CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://n.neurology.org/content/75/17/1548 info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0b013e3181f96175 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Lippincott Williams |
publisher.none.fl_str_mv |
Lippincott Williams |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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1844613814550528000 |
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13.070432 |