NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association..
CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely reduced or undetectable. The mutation induces a strong change in the 3D structure of the mRNA which supports no-go mRNA decay as the probable mechanism for RNA degradation. The mutation was identified in two unrelated Roma individuals showing a common ancestral origin and founder effect. This is the first Roma CAPN3 mutation to be reported.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2019 |
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| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:6 |
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| Enthalten in: |
Annals of clinical and translational neurology - 6(2019), 11 vom: 08. Nov., Seite 2328-2333 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Mavillard, Fabiola [VerfasserIn] |
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| Links: |
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| Themen: |
CAPN3 protein, human |
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| Anmerkungen: |
Date Completed 21.09.2020 Date Revised 21.09.2020 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/acn3.50910 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM302193278 |
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| 245 | 1 | 0 | |a NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay |
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| 520 | |a © 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. | ||
| 520 | |a CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely reduced or undetectable. The mutation induces a strong change in the 3D structure of the mRNA which supports no-go mRNA decay as the probable mechanism for RNA degradation. The mutation was identified in two unrelated Roma individuals showing a common ancestral origin and founder effect. This is the first Roma CAPN3 mutation to be reported | ||
| 650 | 4 | |a Case Reports | |
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| 700 | 1 | |a Ávila-Polo, Rainiero |e verfasserin |4 aut | |
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| 700 | 1 | |a Morón, Francisco J |e verfasserin |4 aut | |
| 700 | 1 | |a Paradas, Carmen |e verfasserin |4 aut | |
| 700 | 1 | |a Cabrera-Serrano, Macarena |e verfasserin |4 aut | |
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