A novel mutation in the [beta]-spectrin gene causes the activation of a cryptic 5'-splice site and the creation of a de novo 3'-splice site

• Published in: Human genome variation Vol. 2; p. 15029
• Main Authors: Salas, Pilar Carrasco, Rosales, José Miguel Lezana, Milla, Carmen Palma, Montiel, Javier López, Siles, Juan López
• Format: Journal Article
• Language: English
• Published: London Springer Nature B.V 01-08-2015
• ISSN: 2054-345X
• DOI: 10.1038/hgv.2015.29

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.