title: Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.
abstract: This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T. We have performed splicing assays for the wild-type and mutant minigenes corresponding to these substitutions. In addition, bioinformatic predictions of splicing regulatory sequence elements as well as RNA interference and overexpression experiments were conducted. The interpretation of these data and further extensive experiments into the analysis of these three mutations and also into the methodology applied to correct one of them can be found in "Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II" Matos et al. (2015) [1].
authors.affiliation: Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal ; Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugal.
authors.forename: Liliana
authors.initials: L
authors.lastname: Matos
authors.affiliation: Research and Development Unit, Department of Human Genetics, INSA, Lisbon, Portugal.
authors.forename: Vânia
authors.initials: V
authors.lastname: Gonçalves
authors.affiliation: Biochemical Genetics Unit, Center for Medical Genetics Jacinto Magalhães, Porto Hospital Center, Porto, Portugal.
authors.forename: Eugénia
authors.initials: E
authors.lastname: Pinto
authors.affiliation: Biochemical Genetics Unit, Center for Medical Genetics Jacinto Magalhães, Porto Hospital Center, Porto, Portugal.
authors.forename: Francisco
authors.initials: F
authors.lastname: Laranjeira
authors.affiliation: Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugal ; i3S - Instituto de Investigação em Saúde/IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Prata
authors.affiliation: Research and Development Unit, Department of Human Genetics, INSA, Lisbon, Portugal.
authors.forename: Peter
authors.initials: P
authors.lastname: Jordan
authors.affiliation: Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain ; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain ; IDIPaz, Madrid, Spain.
authors.forename: Lourdes R
authors.initials: LR
authors.lastname: Desviat
authors.affiliation: Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain ; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain ; IDIPaz, Madrid, Spain.
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez
authors.affiliation: Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal.
authors.forename: Sandra
authors.initials: S
authors.lastname: Alves