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Article

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

BMC medical genetics - 13 Dec 2017

Cattaneo Monica, La Sala Lucia, Rondinelli Maurizio, Errichiello Edoardo, Zuffardi Orsetta, Puca Annibale Alessandro, Genovese Stefano, Ceriello Antonio

Abstract excerpt

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 aggregation. Four mutations in the CISD2 gene have been reported. Among these mutations, the homozygous c.103 + 1G > A...

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Source

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Identifiers

PMID: 29237418
DOI: 10.1186/s12881-017-0508-2
PMCID: PMC5729406

Genes

CISD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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