dc.creator | González del Pozo, María | es |
dc.creator | Méndez Vidal, Cristina | es |
dc.creator | Santoyo-López, Javier | es |
dc.creator | Vela-Boza, Alicia | es |
dc.creator | Bravo Gil, Nereida Inés | es |
dc.creator | Rueda, Antonio | es |
dc.creator | Antiñolo Gil, Guillermo | es |
dc.date.accessioned | 2021-05-10T17:06:45Z | |
dc.date.available | 2021-05-10T17:06:45Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | González del Pozo, M., Méndez Vidal, C., Santoyo-López, J., Vela-Boza, A., Bravo Gil, N.I., Rueda, A. y Antiñolo Gil, G. (2014). Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family. Molecular Genetics and Genomic Medicine, 2 (2) | |
dc.identifier.issn | 2324-9269 | es |
dc.identifier.uri | https://hdl.handle.net/11441/108807 | |
dc.description.abstract | Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide
range of clinical variability. The heterogeneity of this condition is reflected in
the number of underlying gene defects and the epistatic interactions between
the proteins encoded. BBS is generally inherited in an autosomal recessive trait.
However, in some families, mutations across different loci interact to modulate
the expressivity of the phenotype. In order to investigate the magnitude of epistasis in one BBS family with remarkable intrafamilial phenotypic variability, we
designed an exome sequencing–based approach using SOLID 5500xl platform.
This strategy allowed the reliable detection of the primary causal mutations in
our family consisting of two novel compound heterozygous mutations in
McKusick–Kaufman syndrome (MKKS) gene (p.D90G and p.V396F). Additionally, exome sequencing enabled the detection of one novel heterozygous NPHP4
variant which is predicted to activate a cryptic acceptor splice site and is only
present in the most severely affected patient. Here, we provide an exome
sequencing analysis of a BBS family and show the potential utility of this tool,
in combination with network analysis, to detect disease-causing mutations and
second-site modifiers. Our data demonstrate how next-generation sequencing
(NGS) can facilitate the dissection of epistatic phenomena, and shed light on
the genetic basis of phenotypic variability | es |
dc.description.sponsorship | Instituto de Salud Carlos III (ISCIII) | es |
dc.description.sponsorship | Spanish Ministry of Economy and Competitiveness (PI1102923) | es |
dc.description.sponsorship | Regional Ministry of Economy, Innovation, Science and Employment of the Autonomous Government of Andalusia (CTS-03687) | es |
dc.description.sponsorship | Regional Ministry of Health of the Autonomous Government of Andalusia (PI100154), (PCT-30000-2009-12) | es |
dc.description.sponsorship | INNPLANTA (PCT-300000-2010-007) | es |
dc.description.sponsorship | Ciber de Enfermedades raras (CIBERER) | es |
dc.description.sponsorship | Foundation Ramon Areces (CIVP16A1856) | es |
dc.description.sponsorship | Spanish Ministry of Science and Innovation (BIO2011-27069) | es |
dc.description.sponsorship | Conselleria de Educacio of the Valencia Community (PROMETEO/2010/001) | es |
dc.format | application/pdf | es |
dc.format.extent | 10 | es |
dc.language.iso | eng | es |
dc.publisher | Wiley Open Access | es |
dc.relation.ispartof | Molecular Genetics and Genomic Medicine, 2 (2) | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Bardet–Biedl Syndrome | es |
dc.subject | Intrafamilial variability | es |
dc.subject | MKKS | es |
dc.subject | NGS | es |
dc.subject | NPHP4 | es |
dc.title | Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/acceptedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Cirugía | es |
dc.relation.projectID | PI1102923 | es |
dc.relation.projectID | CTS-03687 | es |
dc.relation.projectID | PI100154 | es |
dc.relation.projectID | PCT-30000-2009-12 | es |
dc.relation.projectID | PCT-300000-2010-007 | es |
dc.relation.projectID | CIVP16A1856 | es |
dc.relation.projectID | BIO2011-27069 | es |
dc.relation.projectID | PROMETEO/2010/001 | es |
dc.relation.publisherversion | https://onlinelibrary.wiley.com/doi/10.1002/mgg3.50 | es |
dc.identifier.doi | 10.1002/mgg3.50 | es |
dc.journaltitle | Molecular Genetics and Genomic Medicine | es |
dc.publication.volumen | 2 | es |
dc.publication.issue | 2 | es |