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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.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.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.publisherScientific Reportses_CO
dc.relation.ispartofseriesSci Rep. 2016; 6: 30457
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
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

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