Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
Progressive 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.
Pennacchio
L A
LA
Department of Genetics, Stanford University School of Medicine, Standford, CA 94305, USA.
Lehesjoki
A E
AE
Stone
N E
NE
Willour
V L
VL
Virtaneva
K
K
Miao
J
J
D'Amato
E
E
Ramirez
L
L
Faham
M
M
Koskiniemi
M
M
Warrington
J A
JA
Norio
R
R
de la Chapelle
A
A
Cox
D R
DR
Myers
R M
RM
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D055313:Cystatin B; D015891:Cystatins / Q000737:chemistry / Q000235:genetics*; D015853:Cysteine Proteinase Inhibitors / Q000737:chemistry / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D005387:Finland; D015870:Gene Expression; D005808:Genes, Recessive; D006801:Humans; D007438:Introns / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D011995:Recombination, Genetic
C524994:CSTB protein, human; D018388:Codon, Terminator; D015891:Cystatins; D015853:Cysteine Proteinase Inhibitors; D012333:RNA, Messenger; D055313:Cystatin B