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dc.contributor.authorPengelly, Reuben J.
dc.contributor.authorArias, Liliana
dc.contributor.authorMartínez Lozano, Julio César
dc.contributor.authorUpstill Goddard, Rosanna
dc.contributor.authorSeaby, Eleanor G.
dc.contributor.authorGibson, Jane
dc.contributor.authorEnnis, Sarah
dc.contributor.authorCollins, Andrew R.
dc.contributor.authorBriceño Balcázar, Ignacio
dc.date.accessioned2018-04-24T16:25:50Z
dc.date.available2018-04-24T16:25:50Z
dc.date.issued2016-07-26
dc.identifier.citationPengelly, 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/srep30457es_CO
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960602/
dc.identifier.urihttp://hdl.handle.net/10818/32832
dc.description8 páginases_CO
dc.description.abstractNonsyndromic 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.es_CO
dc.formattext/plaines_CO
dc.language.isoenges_CO
dc.publisherScientific Reportses_CO
dc.relation.ispartofseriesSci Rep. 2016; 6: 30457
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.sourceUniversidad de La Sabanaes_CO
dc.sourceIntellectum Repositorio Universidad de La Sabanaes_CO
dc.titleDeleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypeses_CO
dc.typearticlees_CO
dc.type.hasVersionpublishedVersiones_CO
dc.rights.accessRightsopenAccesses_CO
dc.identifier.doi10.1038/srep30457


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