A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

Abstract Background Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, peptic ulcer bleeding and defective platelet aggr...

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Bibliographic Details
Main Authors: Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello
Format: Article
Language:English
Published: BMC 2017-12-01
Series:BMC Medical Genetics
Subjects:
CISD2
Wolfram syndrome type 2
mRNA splicing
Non functional isoforms
Nonsense-mediated mRNA decay
Online Access:http://link.springer.com/article/10.1186/s12881-017-0508-2

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http://link.springer.com/article/10.1186/s12881-017-0508-2

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