title: A novel mutation in the β-spectrin gene causes the activation of a cryptic 5'-splice site and the creation of a de novo 3'-splice site.
abstract: The analysis of genes involved in hereditary spherocytosis, by next-generation sequencing in two patients with clinical diagnosis of the disease, showed the presence of the c.1795+1G>A mutation in the SPTB gene. cDNA amplification then revealed the occurrence of a consequent aberrant mRNA isoform produced from the activation of a cryptic 5'-splice site and the creation of a newly 3'-splice site. The mechanisms by which these two splice sites are used as a result of the same mutation should be analyzed in depth in further studies.
authors.affiliation: M.G.C. Genetaq , Málaga, Spain.
authors.forename: Pilar Carrasco
authors.initials: PC
authors.lastname: Salas
authors.affiliation: M.G.C. Genetaq , Málaga, Spain.
authors.forename: José Miguel Lezana
authors.initials: JM
authors.lastname: Rosales
authors.affiliation: M.G.C. Genetaq , Málaga, Spain.
authors.forename: Carmen Palma
authors.initials: CP
authors.lastname: Milla
authors.affiliation: M.G.C. Genetaq , Málaga, Spain.
authors.forename: Javier López
authors.initials: JL
authors.lastname: Montiel
authors.affiliation: M.G.C. Genetaq , Málaga, Spain.
authors.forename: Juan López
authors.initials: JL
authors.lastname: Siles