Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome

Detalhes bibliográficos
Autor(a) principal: Fonseca, Claudia Marcia Benedetto de Carvalho
Data de Publicação: 2014
Outros Autores: Zuccherato, Luciana Werneck e, Williams, Christopher L, Neill, Nicholas J, Murdock, David R, Bainbridge, Matthew, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Ip, Wan, Guillerman, Robert Paul, Lupski, James R, Bertuch, Alison A
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/9499
Resumo: Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Belo Horizonte, MG, Brazil.
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spelling Fonseca, Claudia Marcia Benedetto de CarvalhoZuccherato, Luciana Werneck eWilliams, Christopher LNeill, Nicholas JMurdock, David RBainbridge, MatthewJhangiani, Shalini NMuzny, Donna MGibbs, Richard AIp, WanGuillerman, Robert PaulLupski, James RBertuch, Alison A2015-02-19T14:39:14Z2015-02-19T14:39:14Z2014CARVALHO, Claudia Marcia Benedetto de et al. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome. BMC Medical Genetics 2014, v. 15, p. 641471-2350https://www.arca.fiocruz.br/handle/icict/949910.1186/1471-2350-15-64engBioMed CentralStructural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndromeinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleBaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Belo Horizonte, MG, Brazil.Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA.Baylor College of Medicine. Department of Pediatrics. Houston, TX, USA.Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA.Baylor College of Medicine. Human Genome Sequencing Center. Houston, TX, USABaylor College of Medicine. Human Genome Sequencing Center. Houston, TX, USABaylor College of Medicine. Human Genome Sequencing Center. Houston, TX, USABaylor College of Medicine. Human Genome Sequencing Center. Houston, TX, USABaylor College of Medicine. Human Genome Sequencing Center. Houston, TX, USAHospital for Sick Children. Research Institute. Program in Physiology and Experimental Medicine. Toronto, Ontario, Canada.Texas Children’s Hospital. Houston, TX, USA/ Baylor College of Medicine. Department of Radiology. Houston, TX, USA.Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/ Baylor College of Medicine. Department of Pediatrics. Houston, TX, USA/Texas Children’s Hospital. Houston, TX, USABaylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/ Baylor College of Medicine. Department of Pediatrics. Houston, TX, USA/Texas Children’s Hospital. Houston, TX, USABACKGROUND: Shwachman-Diamond syndrome (SDS) is an autosomal recessive ribosomopathy caused mainly by compound heterozygous mutations in SBDS. Structural variation (SV) involving the SBDS locus has been rarely reported in association with the disease. We aimed to determine whether an SV contributed to the pathogenesis of a case lacking biallelic SBDS point mutations. CASE PRESENTATION: Whole exome sequencing was performed in a patient with SDS lacking biallelic SBDS point mutations. Array comparative genomic hybridization and Southern blotting were used to seek SVs across the SBDS locus. Locus-specific polymerase chain reaction (PCR) encompassing flanking intronic sequence was also performed to investigate mutation within the locus. RNA expression and Western blotting were performed to analyze allele and protein expression. We found the child harbored a single missense mutation in SBDS (c.98A > C; p.K33T), inherited from the mother, and an SV in the SBDS locus, inherited from the father. The missense allele and SV segregated in accordance with Mendelian expectations for autosomal recessive SDS. Complementary DNA and western blotting analysis and locus specific PCR support the contention that the SV perturbed SBDS protein expression in the father and child. CONCLUSION: Our findings implicate genomic rearrangements in the pathogenesis of some cases of SDS and support patients lacking biallelic SBDS point mutations be tested for SV within the SBDS locus.Shwachman-Diamond syndromeSBDSStructural variationGenomic rearrangementNon-allelic homologous recombinationLow copy repeatWhole exome sequencingRecessive diseaseinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/9499/1/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD51ORIGINAL2014_082.pdf2014_082.pdfapplication/pdf2566126https://www.arca.fiocruz.br/bitstream/icict/9499/2/2014_082.pdf4b3fcff3506178c29fa9f993d17b1b72MD52TEXT2014_082.pdf.txt2014_082.pdf.txtExtracted texttext/plain45365https://www.arca.fiocruz.br/bitstream/icict/9499/3/2014_082.pdf.txtb53c86cc9123ba1f06d5354c8677679cMD53icict/94992019-06-19 10:07:31.003oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352019-06-19T13:07:31Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
title Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
spellingShingle Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
Fonseca, Claudia Marcia Benedetto de Carvalho
Shwachman-Diamond syndrome
SBDS
Structural variation
Genomic rearrangement
Non-allelic homologous recombination
Low copy repeat
Whole exome sequencing
Recessive disease
title_short Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
title_full Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
title_fullStr Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
title_full_unstemmed Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
title_sort Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
author Fonseca, Claudia Marcia Benedetto de Carvalho
author_facet Fonseca, Claudia Marcia Benedetto de Carvalho
Zuccherato, Luciana Werneck e
Williams, Christopher L
Neill, Nicholas J
Murdock, David R
Bainbridge, Matthew
Jhangiani, Shalini N
Muzny, Donna M
Gibbs, Richard A
Ip, Wan
Guillerman, Robert Paul
Lupski, James R
Bertuch, Alison A
author_role author
author2 Zuccherato, Luciana Werneck e
Williams, Christopher L
Neill, Nicholas J
Murdock, David R
Bainbridge, Matthew
Jhangiani, Shalini N
Muzny, Donna M
Gibbs, Richard A
Ip, Wan
Guillerman, Robert Paul
Lupski, James R
Bertuch, Alison A
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Fonseca, Claudia Marcia Benedetto de Carvalho
Zuccherato, Luciana Werneck e
Williams, Christopher L
Neill, Nicholas J
Murdock, David R
Bainbridge, Matthew
Jhangiani, Shalini N
Muzny, Donna M
Gibbs, Richard A
Ip, Wan
Guillerman, Robert Paul
Lupski, James R
Bertuch, Alison A
dc.subject.en.pt_BR.fl_str_mv Shwachman-Diamond syndrome
SBDS
Structural variation
Genomic rearrangement
Non-allelic homologous recombination
Low copy repeat
Whole exome sequencing
Recessive disease
topic Shwachman-Diamond syndrome
SBDS
Structural variation
Genomic rearrangement
Non-allelic homologous recombination
Low copy repeat
Whole exome sequencing
Recessive disease
description Baylor College of Medicine. Department of Molecular and Human Genetics. Houston, TX, USA/Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Belo Horizonte, MG, Brazil.
publishDate 2014
dc.date.issued.fl_str_mv 2014
dc.date.accessioned.fl_str_mv 2015-02-19T14:39:14Z
dc.date.available.fl_str_mv 2015-02-19T14:39:14Z
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.citation.fl_str_mv CARVALHO, Claudia Marcia Benedetto de et al. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome. BMC Medical Genetics 2014, v. 15, p. 64
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/9499
dc.identifier.issn.none.fl_str_mv 1471-2350
dc.identifier.doi.none.fl_str_mv 10.1186/1471-2350-15-64
identifier_str_mv CARVALHO, Claudia Marcia Benedetto de et al. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome. BMC Medical Genetics 2014, v. 15, p. 64
1471-2350
10.1186/1471-2350-15-64
url https://www.arca.fiocruz.br/handle/icict/9499
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
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