Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd..
The pathogenic role of intronic variants is generally difficult to assess, except for those near known splice sites for which aberrant splicing is suspected, although deeper intronic variants can also alter splicing. We have identified a novel (NM_213599.2:c.1180+6T>C) ANO5 variant that causes the exclusion of exon 12. The mutation, identified in a Roma individual, has an estimated carrier rate of 1.68% among the Iberian Roma population, this being the first ANO5 pathogenic variant communicated in this ethnic group. In this study, we have also characterized the ANO5 splice forms expressed in human muscle with the detection of an alternative transcript, in which exons 8 and 9 are spliced out.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:100 |
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| Enthalten in: |
Clinical genetics - 100(2021), 1 vom: 15. Juli, Seite 106-110 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Mavillard, Fabiola [VerfasserIn] |
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| Links: |
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| Themen: |
ANO5 |
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| Anmerkungen: |
Date Completed 21.12.2021 Date Revised 21.12.2021 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1111/cge.13964 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM323741606 |
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| 520 | |a The pathogenic role of intronic variants is generally difficult to assess, except for those near known splice sites for which aberrant splicing is suspected, although deeper intronic variants can also alter splicing. We have identified a novel (NM_213599.2:c.1180+6T>C) ANO5 variant that causes the exclusion of exon 12. The mutation, identified in a Roma individual, has an estimated carrier rate of 1.68% among the Iberian Roma population, this being the first ANO5 pathogenic variant communicated in this ethnic group. In this study, we have also characterized the ANO5 splice forms expressed in human muscle with the detection of an alternative transcript, in which exons 8 and 9 are spliced out | ||
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