title: Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
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.
authors.affiliation: Departamento de Genética--Unidade I&D-P DLS, CGMJM, Instituto Nacional de Saúde Ricardo Jorge, Porto, Portugal.
authors.forename: Eugénia
authors.initials: E
authors.lastname: Pinto
authors.forename: Joel
authors.initials: J
authors.lastname: Freitas
authors.forename: Ana Joana
authors.initials: AJ
authors.lastname: Duarte
authors.forename: Isaura
authors.initials: I
authors.lastname: Ribeiro
authors.forename: Diogo
authors.initials: D
authors.lastname: Ribeiro
authors.forename: J Lopes
authors.initials: JL
authors.lastname: Lima
authors.forename: João
authors.initials: J
authors.lastname: Chaves
authors.forename: Olga
authors.initials: O
authors.lastname: Amaral
mesh_terms: D000328:Adult; D055313:Cystatin B / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D020033:Protein Isoforms / Q000235:genetics; D020194:Unverricht-Lundborg Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D020033:Protein Isoforms; D055313:Cystatin B