Characterization of a rare Unverricht-Lundborg disease mutation

Ana Joana Duarte; Diogo Ribeiro; João Chaves; Olga Amaral

doi:10.1016/j.ymgmr.2015.07.005

Characterization of a rare Unverricht-Lundborg disease mutation

Mol Genet Metab Rep. 2015 Aug 5:4:68-71. doi: 10.1016/j.ymgmr.2015.07.005. eCollection 2015 Sep.

Authors

Ana Joana Duarte¹, Diogo Ribeiro¹, João Chaves², Olga Amaral¹

Affiliations

¹ Departamento de Genética Humana, Unidade I&D-P DLS, CSPGF, Instituto Nacional de Saúde Ricardo Jorge (INSA, IP), Porto, Portugal.
² Serviço de Neurologia, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.

Abstract

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.

Keywords: AD, allelic discrimination; CSTB, cystatin B gene; Cell fraction; Cstb, cystatin B protein; Cystatin B mutation; Genetics; IF, immunofluorescence; PME, progressive myoclonic epilepsy; Progressive myoclonic epilepsy; RT-PCR, Real-Time PCR; Rare disease; ULD, Unverricht–Lundborg disease; Unverricht–Lundborg disease; WB, Western Blot.