Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy

Detalhes bibliográficos
Autor(a) principal: Andrade, Raissa Coelho
Data de Publicação: 2014
Outros Autores: Nevado, Julián, Lima, Maria Angélica de Faria Domingues de, Salles, Tania Regina Dias Saad, Moraes, Lucia, Chimelli, Leila, Lapunzina, Pablo, Vargas, Fernando Regla
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/10312
http://dx.doi.org/10.1002/ajmg.a.36716
Resumo: Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil.
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spelling Andrade, Raissa CoelhoNevado, JuliánLima, Maria Angélica de Faria Domingues deSalles, Tania Regina Dias SaadMoraes, LuciaChimelli, LeilaLapunzina, PabloVargas, Fernando Regla2015-05-15T13:16:39Z2015-05-15T13:16:39Z2014ANDRADE, Raissa Coelho et al. Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy. American Journal of Medical Genetics Part A, v.164,n.11, p.2908–2913, Nov. 2014.1552-4833https://www.arca.fiocruz.br/handle/icict/10312http://dx.doi.org/10.1002/ajmg.a.36716engWiley Periodicals, Inc.Dissomia UniparentalLAMA2MDCIATNDM6Q24 segmental uniparental disomyDissomia UniparentalSegmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleInstituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil.Universidad Autónoma de Madrid. INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ-CIBERER. Madrid, Spain.Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil / Universidade UnigranRio. Programa de Internato em Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Serviço Neuropediátrico. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Escola de Medicina. Departamento de Patologia. Rio de Janeiro, RJ, Brasil.Universidad Autónoma de Madrid. INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ-CIBERER. Madrid, Spain.Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.Segmental uniparental isodisomy (iUPD) is a rare genetic event that may cause aberrant expression of imprinted genes, and reduction to homozygosity of a recessive mutation. Transient neonatal diabetes mellitus (TNDM) is typically caused by imprinting aberrations in chromosome 6q24 TNDMdifferentiallymethylated region (DMR). Approximately, 15.12Mb upstream in 6q22-q23 is located LAMA2, the gene responsible of merosindeficient congenital muscular dystrophy type 1A (MDC1A).We investigated a patient diagnosed both with TNDMand MDC1A, born from a twin dichorionic discordant pregnancy. Parents are first-degree cousins. Methylation sensitive-PCR of the imprinted 6q24 TNDM CpG island showed only the non-methylated (paternal) allele. Microsatellite markers and SNP array profiling disclosed normal biparental inheritance at 6p and a segmental paternal iUPD, between 6q22.33 and 6q27. Sequencing of LAMA2 exons showed a homozygous frameshift mutation, c.7490_7493dupAAGA, which predicts p.Asp2498GlufsX4, in exon 54. Her father, but not her mother, was a carrier of the mutation. While segmental paternal iUPD6 causing TNDM was reported twice, there are no previous reports of MDC1A caused by this event. This is a child with two genetic disorders, yet neither is caused by the parental consanguinity, which reinforces the importance of considering different etiological mechanisms in the genetic clinic.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txttext/plain1914https://www.arca.fiocruz.br/bitstream/icict/10312/1/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD51ORIGINALfernando_vargas2etal_IOC_2014.pdfapplication/pdf721211https://www.arca.fiocruz.br/bitstream/icict/10312/2/fernando_vargas2etal_IOC_2014.pdfff4a44c041b1eb983e9c064c3471879dMD52TEXTfernando_vargas2etal_IOC_2014.pdf.txtfernando_vargas2etal_IOC_2014.pdf.txtExtracted texttext/plain22730https://www.arca.fiocruz.br/bitstream/icict/10312/3/fernando_vargas2etal_IOC_2014.pdf.txt96e7ba7e9ad8051c4f359103c912bf7aMD53icict/103122022-06-24 12:17:34.593oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352022-06-24T15:17:34Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy
title Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy
spellingShingle Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy
Andrade, Raissa Coelho
Dissomia Uniparental
LAMA2
MDCIA
TNDM
6Q24 segmental uniparental disomy
Dissomia Uniparental
title_short Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy
title_full Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy
title_fullStr Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy
title_full_unstemmed Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy
title_sort Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy
author Andrade, Raissa Coelho
author_facet Andrade, Raissa Coelho
Nevado, Julián
Lima, Maria Angélica de Faria Domingues de
Salles, Tania Regina Dias Saad
Moraes, Lucia
Chimelli, Leila
Lapunzina, Pablo
Vargas, Fernando Regla
author_role author
author2 Nevado, Julián
Lima, Maria Angélica de Faria Domingues de
Salles, Tania Regina Dias Saad
Moraes, Lucia
Chimelli, Leila
Lapunzina, Pablo
Vargas, Fernando Regla
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Andrade, Raissa Coelho
Nevado, Julián
Lima, Maria Angélica de Faria Domingues de
Salles, Tania Regina Dias Saad
Moraes, Lucia
Chimelli, Leila
Lapunzina, Pablo
Vargas, Fernando Regla
dc.subject.other.pt_BR.fl_str_mv Dissomia Uniparental
topic Dissomia Uniparental
LAMA2
MDCIA
TNDM
6Q24 segmental uniparental disomy
Dissomia Uniparental
dc.subject.en.pt_BR.fl_str_mv LAMA2
MDCIA
TNDM
6Q24 segmental uniparental disomy
dc.subject.decs.pt_BR.fl_str_mv Dissomia Uniparental
description Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil.
publishDate 2014
dc.date.issued.fl_str_mv 2014
dc.date.accessioned.fl_str_mv 2015-05-15T13:16:39Z
dc.date.available.fl_str_mv 2015-05-15T13:16:39Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.citation.fl_str_mv ANDRADE, Raissa Coelho et al. Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy. American Journal of Medical Genetics Part A, v.164,n.11, p.2908–2913, Nov. 2014.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/10312
dc.identifier.issn.pt_BR.fl_str_mv 1552-4833
dc.identifier.doi.pt_BR.fl_str_mv http://dx.doi.org/10.1002/ajmg.a.36716
identifier_str_mv ANDRADE, Raissa Coelho et al. Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy. American Journal of Medical Genetics Part A, v.164,n.11, p.2908–2913, Nov. 2014.
1552-4833
url https://www.arca.fiocruz.br/handle/icict/10312
http://dx.doi.org/10.1002/ajmg.a.36716
dc.language.iso.fl_str_mv eng
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dc.publisher.none.fl_str_mv Wiley Periodicals, Inc.
publisher.none.fl_str_mv Wiley Periodicals, Inc.
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
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