Description:
MYOPATHY, MYOFIBRILLAR, 13, WITH RIMMED VACUOLES; MFM13
HEAT-SHOCK 22-KD PROTEIN 8; HSPB8
RIMMED VACUOLAR MYOPATHY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family Member
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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
HSPB8 |
| Chromosomal Location |
12q24.23 |
| Allelic Variant 1 |
p.P173Sfs*43; MYOPATHY, MYOFIBRILLAR, 13, WITH RIMMED VACUOLES; MFM13 |
| Identified Mutation |
c.515dupC (p.P173Sfs*43) |
| Remarks |
Clinically affected; diagnosed at 38 years of age by neuromuscular specialist; autosomal dominant distal myopathy; motor neuropathy; muscle weakness; rosacea; benign prostatic hyperplasia; gout; right bundle branch block; chronic right upper quadrant pain; whole exome sequencing revealed an insertion in an intron with a region of sequence variant identity on chromosome 9 between 35,060,302 and 35,066,579 (region includes VCP gene); co-segregation analysis results and confirmation by automated Sanger sequencing revealed a maternally inherited heterozygous mutation in the HSPB8 gene: c.515dupC (p.P173Sfs*43) in exon CDS 3; positive family history: this mutation is also present in the affected mother (lymph GM26097, fibro GM26098) and affected maternal uncle (fibro GM26579); heterozygous variants of uncertain significance (VUS) that are present in the proband, mother and uncle are: CCDC78 c.986T>C (p.I329T), MUSK c.43C>A (p.L15M), and TRIM32 c.1223G>A (p.R408H); heterozygous VUS present in the proband, but absent in both the mother and uncle are: MYH14 c.1607C>T (p.P536L), and TTN c.27601G>T (p.A9201S); unaffected brother (GM26099-lymph); at-risk maternal aunt (GM26100-lymph); also see fibro GM26096; pedigree and family history in PMID 31403083. |
| Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V, New family with HSPB 8-associated autosomal dominant rimmed vacuolar myopathy Neurology Genetics5:e349 2018 |
| PubMed ID: 31403083 |
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