Structural variation and missense mutation in SBDS associated with Shwachman-Diamond Syndrome
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2014 |
| Outros Autores: | , , , , , , , , , , , |
| 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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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. |
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2014 |
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2014 |
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2015-02-19T14:39:14Z |
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2015-02-19T14:39:14Z |
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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 |
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1471-2350 |
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10.1186/1471-2350-15-64 |
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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 |
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