Characterization of a rare Unverricht–Lundborg disease mutation

Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G>A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this...

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Bibliographic Details
Published in:Molecular genetics and metabolism reports 2015-09, Vol.4 (C), p.68-71
Main Authors: Duarte, Ana Joana, Ribeiro, Diogo, Chaves, João, Amaral, Olga
Format: Article
Language:English
Subjects:
Cell fraction
Cystatin B mutation
Genetics
Progressive myoclonic epilepsy
Rare disease
Short Communication
Unverricht–Lundborg disease
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Summary:Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G>A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation at the population level and at the cellular level. The cellular fractionation studies here carried out showed mislocalization of the protein and add to the knowledge on this disease. •Cystatin B mutation c.66G>A is undoubtedly rare.•Protein fractionation demonstrated that cystatin B is mislocated in the mutant cells.•Mislocation of cystatin B may be the underlying cause of Unverricht–Lundborg.
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2015.07.005