Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes
8 páginas
- Autores:
-
Pengelly, Reuben J.
Arias, Liliana
Martínez Lozano, Julio César
Upstill Goddard, Rosanna
Seaby, Eleanor G.
Gibson, Jane
Ennis, Sarah
Collins, Andrew R.
Briceño Balcázar, Ignacio
- Tipo de recurso:
- Fecha de publicación:
- 2016
- Institución:
- Universidad de la Sabana
- Repositorio:
- Repositorio Universidad de la Sabana
- Idioma:
- eng
- OAI Identifier:
- oai:intellectum.unisabana.edu.co:10818/32832
- Acceso en línea:
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960602/
http://hdl.handle.net/10818/32832
- Palabra clave:
- Rights
- License
- Attribution-NonCommercial-NoDerivatives 4.0 International
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Pengelly, Reuben J.Arias, LilianaMartínez Lozano, Julio CésarUpstill Goddard, RosannaSeaby, Eleanor G.Gibson, JaneEnnis, SarahCollins, Andrew R.Briceño Balcázar, Ignacio4/24/2018 11:252018-04-24T16:25:50Z2016-07-26Pengelly, RJ. Arias, L. Martínez, J. Upstill-Goddard, R., Seaby, EG. Gibson, J. Ennis, S. Collins, A. Briceño, I (2016) Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. Scientific Reports. 6(30457), 1-11. DOI: 10.1038/srep30457https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960602/http://hdl.handle.net/10818/3283210.1038/srep304578 páginasNonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting.application/pdfengScientific ReportsSci Rep. 2016; 6: 30457Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2Universidad de La SabanaIntellectum Repositorio Universidad de La SabanaDeleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypesarticlepublishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501ORIGINALDeleterious coding.pdfDeleterious coding.pdfVer artículoapplication/pdf482684https://intellectum.unisabana.edu.co/bitstream/10818/32832/1/Deleterious%20coding.pdf79a4fdbd28639baed2d2da369ee0cf66MD51TEXTDeleterious coding.pdf.txtDeleterious coding.pdf.txtExtracted Texttext/plain34608https://intellectum.unisabana.edu.co/bitstream/10818/32832/4/Deleterious%20coding.pdf.txt495c87f5ccce0fd15b6eb942b0c8225cMD54CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-81223https://intellectum.unisabana.edu.co/bitstream/10818/32832/2/license_rdf7c9ab7f006165862d8ce9ac5eac01552MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-8498https://intellectum.unisabana.edu.co/bitstream/10818/32832/3/license.txtf52a2cfd4df262e08e9b300d62c85cabMD5310818/32832oai:intellectum.unisabana.edu.co:10818/328322022-05-10 05:15:59.572Intellectum Universidad de la Sabanacontactointellectum@unisabana.edu.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 |
| dc.title.es_CO.fl_str_mv |
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes |
| title |
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes |
| spellingShingle |
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes |
| title_short |
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes |
| title_full |
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes |
| title_fullStr |
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes |
| title_full_unstemmed |
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes |
| title_sort |
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes |
| dc.creator.fl_str_mv |
Pengelly, Reuben J. Arias, Liliana Martínez Lozano, Julio César Upstill Goddard, Rosanna Seaby, Eleanor G. Gibson, Jane Ennis, Sarah Collins, Andrew R. Briceño Balcázar, Ignacio |
| dc.contributor.author.none.fl_str_mv |
Pengelly, Reuben J. Arias, Liliana Martínez Lozano, Julio César Upstill Goddard, Rosanna Seaby, Eleanor G. Gibson, Jane Ennis, Sarah Collins, Andrew R. Briceño Balcázar, Ignacio |
| description |
8 páginas |
| publishDate |
2016 |
| dc.date.issued.none.fl_str_mv |
2016-07-26 |
| dc.date.available.none.fl_str_mv |
2018-04-24T16:25:50Z |
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4/24/2018 11:25 |
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article |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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publishedVersion |
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Pengelly, RJ. Arias, L. Martínez, J. Upstill-Goddard, R., Seaby, EG. Gibson, J. Ennis, S. Collins, A. Briceño, I (2016) Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. Scientific Reports. 6(30457), 1-11. DOI: 10.1038/srep30457 |
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960602/ |
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http://hdl.handle.net/10818/32832 |
| dc.identifier.doi.none.fl_str_mv |
10.1038/srep30457 |
| identifier_str_mv |
Pengelly, RJ. Arias, L. Martínez, J. Upstill-Goddard, R., Seaby, EG. Gibson, J. Ennis, S. Collins, A. Briceño, I (2016) Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. Scientific Reports. 6(30457), 1-11. DOI: 10.1038/srep30457 10.1038/srep30457 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960602/ http://hdl.handle.net/10818/32832 |
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eng |
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eng |
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Sci Rep. 2016; 6: 30457 |
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Attribution-NonCommercial-NoDerivatives 4.0 International |
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http://creativecommons.org/licenses/by-nc-nd/4.0/ |
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Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ http://purl.org/coar/access_right/c_abf2 |
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Scientific Reports |
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Universidad de La Sabana Intellectum Repositorio Universidad de La Sabana |
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Universidad de la Sabana |
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