Unverricht–Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene
2011; Elsevier BV; Volume: 99; Issue: 1-2 Linguagem: Inglês
10.1016/j.eplepsyres.2011.11.004
ISSN1872-6844
AutoresEugénia Pinto, Joel Freitas, Ana Joana Duarte, Isaura Ribeiro, Diogo Ribeiro, José Lopes Lima, João Chaves, Olga Amaral,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoUnverricht–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.
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