Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene

Eugénia Pinto; Joel Freitas; Ana Joana Duarte; Isaura Ribeiro; Diogo Ribeiro; J Lopes Lima; João Chaves; Olga Amaral

doi:10.1016/j.eplepsyres.2011.11.004

Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene

Epilepsy Res. 2012 Mar;99(1-2):187-90. doi: 10.1016/j.eplepsyres.2011.11.004. Epub 2011 Dec 10.

Authors

Eugénia Pinto¹, Joel Freitas, Ana Joana Duarte, Isaura Ribeiro, Diogo Ribeiro, J Lopes Lima, João Chaves, Olga Amaral

Affiliation

¹ Departamento de Genética--Unidade I&D-P DLS, CGMJM, Instituto Nacional de Saúde Ricardo Jorge, Porto, Portugal.

PMID: 22154554
DOI: 10.1016/j.eplepsyres.2011.11.004

Abstract

Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cystatin B / genetics*
Homozygote*
Humans
Male
Mutation*
Protein Isoforms / genetics
Unverricht-Lundborg Syndrome / diagnosis
Unverricht-Lundborg Syndrome / genetics*

Substances

Protein Isoforms
Cystatin B