NA13717
DNA from Fibroblast
Description:
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
DRPLA GENE; DRPLA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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2
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Relation to Proband
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cousin
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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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| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Gene |
DRPLA |
| Chromosomal Location |
1213.31 |
| Allelic Variant 1 |
607462.0001; DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY |
| Identified Mutation |
(CAG)n EXPANSION; DRPLA is caused by expansion of a trinucleotide repeat (CAG)n. The repeat size varies from 7 to 23 in normal individuals and shows an expansion to approximately 49 to 75 (and occasionally even more) in patients. As with other disorders caused by expanded trinucleotide repeats, expansion is usually associated with paternal transmission. The repeat size correlates inversely with age-of-onset of symptoms and with disease severity. |
| Remarks |
Progressive neurodegenerative disorder; ataxia, cognitive impairment, dementia, choreiform movements, and speech difficulties; seizure disorder at age 46; DRPLA CAG expansion repeat alleles are 15 and 65 |
| Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W, Test development, optimization and validation of a WGS pipeline for genetic disorders BMC medical genomics16:74 2022 |
| PubMed ID: 37020281 |
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| Kotowska-Zimmer A, Ostrovska Y, Olejniczak M, Universal RNAi Triggers for the Specific Inhibition of Mutant Huntingtin, Atrophin-1, Ataxin-3, and Ataxin-7 Expression Molecular therapy Nucleic acids19:562-571 2019 |
| PubMed ID: 31927329 |
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| Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019 |
| PubMed ID: 31230722 |
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| Yamashita H, Tomoshige S, Nomura S, Ohgane K, Hashimoto Y, Ishikawa M, Application of protein knockdown strategy targeting ß-sheet structure to multiple disease-associated polyglutamine proteins Bioorganic & medicinal chemistry28:115175 2019 |
| PubMed ID: 31767406 |
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| Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics28:115175 2017 |
| PubMed ID: 30503517 |
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| de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ, Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference Nucleic acids research39:3852-63 2011 |
| PubMed ID: 21247881 |
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| Potter NT, Meyer MA, Zimmerman AW, Eisenstadt ML, Anderson IJ, Molecular and clinical findings in a family with dentatorubral- pallidoluysian atrophy. Ann Neurol37:273-7 1995 |
| PubMed ID: 7847869 |
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