Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
1996; American Association for the Advancement of Science; Volume: 271; Issue: 5256 Linguagem: Inglês
10.1126/science.271.5256.1731
ISSN1095-9203
AutoresL Pennacchio, Anna‐Elina Lehesjoki, Nancy Stone, Virginia L. Willour, Kimmo Virtaneva, Jinmin Miao, Elena D’Amato, Lucı́a Ramı́rez, Malek Faham, Marjaleena Koskiniemi, Janet A. Warrington, Reijo Norio, Albert de la Chapelle, David R. Cox, R Myers,
Tópico(s)Amino Acid Enzymes and Metabolism
ResumoProgressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The gene encoding cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this gene were found to be decreased in cells from affected individuals. Two mutations, a 3′ splice site mutation and a stop codon mutation, were identified in the gene encoding cystatin B in EPM1 patients but were not present in unaffected individuals. These results provide evidence that mutations in the gene encoding cystatin B are responsible for the primary defect in patients with EPM1.
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