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

Pilar Carrasco Salas; José Miguel Lezana Rosales; Carmen Palma Milla; Javier López Montiel; Juan López Siles

doi:10.1038/hgv.2015.29

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

Hum Genome Var. 2015 Aug 27:2:15029. doi: 10.1038/hgv.2015.29. eCollection 2015.

Authors

Pilar Carrasco Salas¹, José Miguel Lezana Rosales¹, Carmen Palma Milla¹, Javier López Montiel¹, Juan López Siles¹

Affiliation

¹ M.G.C. Genetaq , Málaga, Spain.

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.