Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype
Autor(a) principal: | |
---|---|
Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/234474 |
Resumo: | Background Morquio B disease (MBD) is a distinct GLB1-related dysostosis multiplex presenting a mild phenocopy of GALNS-related Morquio A disease. Previously reported cases from European countries carry the W273L variant on at least one GLB1 allele and exhibit a pure skeletal phenotype (pure MBD). Only a minority of MBD cases have been described with additional neuronopathic findings (MBD plus). Objectives and Methods With the aim to further describe patterns of MBD-related dysostosis multiplex, we analyzed clinical, biochemical, and genetic features in 17 cases with GLB1-related dysostosis multiplex living and diagnosed in Brazil. Results About 14 of the 17 individuals had three or more skeletal findings characteristic of Morquio syndrome. Two had no additional neuronopathic features (pure MBD) and 12 exhibited additional neuronopathic features (MBD plus). Three of the 17 cases had mild dysostosis without distinct features of MBD. Seven of the 12 MBD plus patients had signs of spinal cord compression (SCC), as a result of progressive spinal vertebral dysostosis. There was an age-dependent increase in the number of skeletal findings and in the severity of growth impairment. GLB1 mutation analysis was completed in 10 of the 14 MBD patients. T500A occurred in compound heterozygosity in 8 of the 19 alleles. Conclusion Our study extends the phenotypic spectrum of GLB1-related conditions by describing a cohort of patients with MBD and GM1-gangliosidosis (MBD plus). Targeting the progressive nature of the skeletal manifestations in the development of new therapies for GLB1-related conditions is warranted. |
id |
UFRGS-2_3b87be059a7d3373f2d99b2467a5bedb |
---|---|
oai_identifier_str |
oai:www.lume.ufrgs.br:10183/234474 |
network_acronym_str |
UFRGS-2 |
network_name_str |
Repositório Institucional da UFRGS |
repository_id_str |
|
spelling |
Ipsiroglu, Sylvia StocklerYazdanpanah, NahidYazdanpanah, MojganPopurs, Marioara MoisaYuskiv, NataliyaSantos, Mara Lúcia Schmitz FerreiraKim, Chong AeSouza, Carolina Fischinger Moura deLourenço, Charles MarquesSteiner, Carlos EduardoFederhen, AndressaGiugliani, LucianaPereira, Débora Maria BastosDuran Carabali, Luz ElenaGiugliani, Roberto2022-01-27T04:30:20Z20212192-8304http://hdl.handle.net/10183/234474001136093Background Morquio B disease (MBD) is a distinct GLB1-related dysostosis multiplex presenting a mild phenocopy of GALNS-related Morquio A disease. Previously reported cases from European countries carry the W273L variant on at least one GLB1 allele and exhibit a pure skeletal phenotype (pure MBD). Only a minority of MBD cases have been described with additional neuronopathic findings (MBD plus). Objectives and Methods With the aim to further describe patterns of MBD-related dysostosis multiplex, we analyzed clinical, biochemical, and genetic features in 17 cases with GLB1-related dysostosis multiplex living and diagnosed in Brazil. Results About 14 of the 17 individuals had three or more skeletal findings characteristic of Morquio syndrome. Two had no additional neuronopathic features (pure MBD) and 12 exhibited additional neuronopathic features (MBD plus). Three of the 17 cases had mild dysostosis without distinct features of MBD. Seven of the 12 MBD plus patients had signs of spinal cord compression (SCC), as a result of progressive spinal vertebral dysostosis. There was an age-dependent increase in the number of skeletal findings and in the severity of growth impairment. GLB1 mutation analysis was completed in 10 of the 14 MBD patients. T500A occurred in compound heterozygosity in 8 of the 19 alleles. Conclusion Our study extends the phenotypic spectrum of GLB1-related conditions by describing a cohort of patients with MBD and GM1-gangliosidosis (MBD plus). Targeting the progressive nature of the skeletal manifestations in the development of new therapies for GLB1-related conditions is warranted.application/pdfengJIMD reports. Heidelberg. Vol. 60 (2021), p. 23-31.Mucopolissacaridose IVDistoniaSulfato de ceratanobeta-GalactosidaseGangliosidose GM1OsteocondrodisplasiasDystoniaKeratan sulfateMucopolysaccharidosis type IVBSpondyloepiphyseal dysplasiaType 3 GM1 gangliosidosisβ-galactosidaseMorquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotypeEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001136093.pdf.txt001136093.pdf.txtExtracted Texttext/plain34694http://www.lume.ufrgs.br/bitstream/10183/234474/2/001136093.pdf.txt87c6d33ba8de0a11e759a9c1441c4c21MD52ORIGINAL001136093.pdfTexto completo (inglês)application/pdf1292414http://www.lume.ufrgs.br/bitstream/10183/234474/1/001136093.pdf4027665de28035fa38166193d9e9070bMD5110183/2344742022-02-22 04:44:43.674135oai:www.lume.ufrgs.br:10183/234474Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2022-02-22T07:44:43Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype |
title |
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype |
spellingShingle |
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype Ipsiroglu, Sylvia Stockler Mucopolissacaridose IV Distonia Sulfato de ceratano beta-Galactosidase Gangliosidose GM1 Osteocondrodisplasias Dystonia Keratan sulfate Mucopolysaccharidosis type IVB Spondyloepiphyseal dysplasia Type 3 GM1 gangliosidosis β-galactosidase |
title_short |
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype |
title_full |
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype |
title_fullStr |
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype |
title_full_unstemmed |
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype |
title_sort |
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype |
author |
Ipsiroglu, Sylvia Stockler |
author_facet |
Ipsiroglu, Sylvia Stockler Yazdanpanah, Nahid Yazdanpanah, Mojgan Popurs, Marioara Moisa Yuskiv, Nataliya Santos, Mara Lúcia Schmitz Ferreira Kim, Chong Ae Souza, Carolina Fischinger Moura de Lourenço, Charles Marques Steiner, Carlos Eduardo Federhen, Andressa Giugliani, Luciana Pereira, Débora Maria Bastos Duran Carabali, Luz Elena Giugliani, Roberto |
author_role |
author |
author2 |
Yazdanpanah, Nahid Yazdanpanah, Mojgan Popurs, Marioara Moisa Yuskiv, Nataliya Santos, Mara Lúcia Schmitz Ferreira Kim, Chong Ae Souza, Carolina Fischinger Moura de Lourenço, Charles Marques Steiner, Carlos Eduardo Federhen, Andressa Giugliani, Luciana Pereira, Débora Maria Bastos Duran Carabali, Luz Elena Giugliani, Roberto |
author2_role |
author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Ipsiroglu, Sylvia Stockler Yazdanpanah, Nahid Yazdanpanah, Mojgan Popurs, Marioara Moisa Yuskiv, Nataliya Santos, Mara Lúcia Schmitz Ferreira Kim, Chong Ae Souza, Carolina Fischinger Moura de Lourenço, Charles Marques Steiner, Carlos Eduardo Federhen, Andressa Giugliani, Luciana Pereira, Débora Maria Bastos Duran Carabali, Luz Elena Giugliani, Roberto |
dc.subject.por.fl_str_mv |
Mucopolissacaridose IV Distonia Sulfato de ceratano beta-Galactosidase Gangliosidose GM1 Osteocondrodisplasias |
topic |
Mucopolissacaridose IV Distonia Sulfato de ceratano beta-Galactosidase Gangliosidose GM1 Osteocondrodisplasias Dystonia Keratan sulfate Mucopolysaccharidosis type IVB Spondyloepiphyseal dysplasia Type 3 GM1 gangliosidosis β-galactosidase |
dc.subject.eng.fl_str_mv |
Dystonia Keratan sulfate Mucopolysaccharidosis type IVB Spondyloepiphyseal dysplasia Type 3 GM1 gangliosidosis β-galactosidase |
description |
Background Morquio B disease (MBD) is a distinct GLB1-related dysostosis multiplex presenting a mild phenocopy of GALNS-related Morquio A disease. Previously reported cases from European countries carry the W273L variant on at least one GLB1 allele and exhibit a pure skeletal phenotype (pure MBD). Only a minority of MBD cases have been described with additional neuronopathic findings (MBD plus). Objectives and Methods With the aim to further describe patterns of MBD-related dysostosis multiplex, we analyzed clinical, biochemical, and genetic features in 17 cases with GLB1-related dysostosis multiplex living and diagnosed in Brazil. Results About 14 of the 17 individuals had three or more skeletal findings characteristic of Morquio syndrome. Two had no additional neuronopathic features (pure MBD) and 12 exhibited additional neuronopathic features (MBD plus). Three of the 17 cases had mild dysostosis without distinct features of MBD. Seven of the 12 MBD plus patients had signs of spinal cord compression (SCC), as a result of progressive spinal vertebral dysostosis. There was an age-dependent increase in the number of skeletal findings and in the severity of growth impairment. GLB1 mutation analysis was completed in 10 of the 14 MBD patients. T500A occurred in compound heterozygosity in 8 of the 19 alleles. Conclusion Our study extends the phenotypic spectrum of GLB1-related conditions by describing a cohort of patients with MBD and GM1-gangliosidosis (MBD plus). Targeting the progressive nature of the skeletal manifestations in the development of new therapies for GLB1-related conditions is warranted. |
publishDate |
2021 |
dc.date.issued.fl_str_mv |
2021 |
dc.date.accessioned.fl_str_mv |
2022-01-27T04:30:20Z |
dc.type.driver.fl_str_mv |
Estrangeiro info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/234474 |
dc.identifier.issn.pt_BR.fl_str_mv |
2192-8304 |
dc.identifier.nrb.pt_BR.fl_str_mv |
001136093 |
identifier_str_mv |
2192-8304 001136093 |
url |
http://hdl.handle.net/10183/234474 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
JIMD reports. Heidelberg. Vol. 60 (2021), p. 23-31. |
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.source.none.fl_str_mv |
reponame:Repositório Institucional da UFRGS instname:Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS |
instname_str |
Universidade Federal do Rio Grande do Sul (UFRGS) |
instacron_str |
UFRGS |
institution |
UFRGS |
reponame_str |
Repositório Institucional da UFRGS |
collection |
Repositório Institucional da UFRGS |
bitstream.url.fl_str_mv |
http://www.lume.ufrgs.br/bitstream/10183/234474/2/001136093.pdf.txt http://www.lume.ufrgs.br/bitstream/10183/234474/1/001136093.pdf |
bitstream.checksum.fl_str_mv |
87c6d33ba8de0a11e759a9c1441c4c21 4027665de28035fa38166193d9e9070b |
bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 |
repository.name.fl_str_mv |
Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS) |
repository.mail.fl_str_mv |
|
_version_ |
1798487506890522624 |