Gene: CSTB

Alternate names for this Gene: CPI-B|CST6|EPM1|EPM1A|PME|STFB|ULD

Gene Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: cystatin B

Type of Gene: protein-coding

rs147484110 in CSTB gene and Dysmorphic features PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 22154554 2012 Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 17158032 2007 Long-term evolution of EEG in Unverricht-Lundborg disease.

PMID 18325013 2008 Clinical picture of EPM1-Unverricht-Lundborg disease.

PMID 28378817 2017 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

PMID 12058102 2002 Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

PMID 21757863 2011 Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

rs74315442 in CSTB gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs545986367 in CSTB gene and Movement Disorders PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 22154554 2012 Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

PMID 21757863 2011 Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

PMID 28378817 2017 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 18325013 2008 Clinical picture of EPM1-Unverricht-Lundborg disease.

PMID 12058102 2002 Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

PMID 17158032 2007 Long-term evolution of EEG in Unverricht-Lundborg disease.

rs147484110 in CSTB gene and Muscle hypotonia PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 12058102 2002 Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 28378817 2017 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

PMID 18325013 2008 Clinical picture of EPM1-Unverricht-Lundborg disease.

PMID 17158032 2007 Long-term evolution of EEG in Unverricht-Lundborg disease.

PMID 22154554 2012 Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.

PMID 21757863 2011 Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.

rs147484110 in CSTB gene and Myoclonic Epilepsies, Progressive PMID 9012407 1997 Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

PMID 17003839 2007 Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 8596935 1996 Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

PMID 9360639 1997 G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene.

PMID 9054946 1997 Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.

PMID 15483648 2005 Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 9342192 1997 Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.

PMID 17920138 2008 Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo.

PMID 10441148 1999 Importance of the second binding loop and the C-terminal end of cystatin B (stefin B) for inhibition of cysteine proteinases.

rs147484110 in CSTB gene and Unverricht-Lundborg Syndrome PMID 9360639 1997 G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene.

PMID 23205931 2012 Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

PMID 8596935 1996 Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

PMID 17003839 2007 Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.

PMID 11814737 2002 Unverricht-Lundborg disease with cystatin B gene abnormalities.

PMID 20078424 2010 Intracellular aggregation of human stefin B: confocal and electron microscopy study.

PMID 16155205 2005 In vitro study of stability and amyloid-fibril formation of two mutants of human stefin B (cystatin B) occurring in patients with EPM1.

PMID 9054946 1997 Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.

PMID 21757863 2011 We describe the clinical, cognitive and imaging characteristics of 5 Finnish EPM1 patients who are compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutations.

PMID 15483648 2005 Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

PMID 26843564 2016 CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

PMID 18028412 2008 Molecular background of EPM1-Unverricht-Lundborg disease.

PMID 22936898 2012 Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.

PMID 15329070 2004 Univerricht-Lundborg disease: underdiagnosed in the Netherlands.

PMID 18925453 2008 Size and morphology of toxic oligomers of amyloidogenic proteins: a case study of human stefin B.

PMID 9012407 1997 The 426G-->C change in exon 1 results in a Gly4Arg substitution and is the first missense mutation described that is associated with EPM1.