SLC35A2-CDG: Novel variant and review
Autor(a) principal: | |
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Data de Publicação: | 2021 |
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/10400.16/2879 |
Resumo: | SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients. |
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SLC35A2-CDG: Novel variant and reviewCDGCongenital disorder(s) of glycosylationIGF1PhenotypeSLC35A2Sequence comparisonVariantSLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients.ElsevierRepositório Científico do Centro Hospitalar Universitário de Santo AntónioQuelhas, DCorreia, JoanaJaeken, JaakAzevedo, LuísaLopes-Marques, MónicaBandeira, AnabelaKeldermans, LiesbethMatthijs, GertSturiale, LuisaMartins, Esmeralda2023-11-12T19:26:14Z2021-012021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2879engQuelhas D, Correia J, Jaeken J, et al. SLC35A2-CDG: Novel variant and review. Mol Genet Metab Rep. 2021;26:100717. doi:10.1016/j.ymgmr.2021.1007172214-426910.1016/j.ymgmr.2021.100717info: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:RCAAP2023-11-16T07:45:23Zoai:repositorio.chporto.pt:10400.16/2879Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:42:38.973304Repositório 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 |
SLC35A2-CDG: Novel variant and review |
title |
SLC35A2-CDG: Novel variant and review |
spellingShingle |
SLC35A2-CDG: Novel variant and review Quelhas, D CDG Congenital disorder(s) of glycosylation IGF1 Phenotype SLC35A2 Sequence comparison Variant |
title_short |
SLC35A2-CDG: Novel variant and review |
title_full |
SLC35A2-CDG: Novel variant and review |
title_fullStr |
SLC35A2-CDG: Novel variant and review |
title_full_unstemmed |
SLC35A2-CDG: Novel variant and review |
title_sort |
SLC35A2-CDG: Novel variant and review |
author |
Quelhas, D |
author_facet |
Quelhas, D Correia, Joana Jaeken, Jaak Azevedo, Luísa Lopes-Marques, Mónica Bandeira, Anabela Keldermans, Liesbeth Matthijs, Gert Sturiale, Luisa Martins, Esmeralda |
author_role |
author |
author2 |
Correia, Joana Jaeken, Jaak Azevedo, Luísa Lopes-Marques, Mónica Bandeira, Anabela Keldermans, Liesbeth Matthijs, Gert Sturiale, Luisa Martins, Esmeralda |
author2_role |
author author 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 |
Quelhas, D Correia, Joana Jaeken, Jaak Azevedo, Luísa Lopes-Marques, Mónica Bandeira, Anabela Keldermans, Liesbeth Matthijs, Gert Sturiale, Luisa Martins, Esmeralda |
dc.subject.por.fl_str_mv |
CDG Congenital disorder(s) of glycosylation IGF1 Phenotype SLC35A2 Sequence comparison Variant |
topic |
CDG Congenital disorder(s) of glycosylation IGF1 Phenotype SLC35A2 Sequence comparison Variant |
description |
SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-01 2021-01-01T00:00:00Z 2023-11-12T19:26:14Z |
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.uri.fl_str_mv |
http://hdl.handle.net/10400.16/2879 |
url |
http://hdl.handle.net/10400.16/2879 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Quelhas D, Correia J, Jaeken J, et al. SLC35A2-CDG: Novel variant and review. Mol Genet Metab Rep. 2021;26:100717. doi:10.1016/j.ymgmr.2021.100717 2214-4269 10.1016/j.ymgmr.2021.100717 |
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 |
publisher.none.fl_str_mv |
Elsevier |
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 |
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1799134992566059008 |