High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil
© 2023 Bentham Science Publishers..
Background: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF).
Objective: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF responsible for limb girdle muscular dystrophy type 2R and distal muscular dystrophy.
Methods: Genotyping analyses were performed by qPCR using customized probe complementary to the region with the duplication under analysis in the DYSF.
Results: A total of 104 individuals were examined. c.5979dupA was identified in 48 (46.15%) individuals. Twenty-three (22%) were homozygotes, among whom 13 (56.5%) were female. A total of 91.3% (21) of homozygous individuals had a positive family history, and seven (30.4%) reported consanguineous marriages. Twenty-five (24%) individuals were heterozygous (25.8±16 years) for the same variant, among whom 15 (60%) were female. The mean CK level was 697 IU for homozygotes, 140.5 IU for heterozygotes and 176 IU for wild-type homo-zygotes. The weakness distribution pattern showed 17.3% of individuals with a proximal pattern, 13% with a distal pattern and 69.6% with a mixed pattern. Fatigue was present in 15 homozygotes and one heterozygote.
Conclusion: The high prevalence of this variant in individuals from this small community can be explained by a possible founder effect associated with historical, geographical and cultural aspects.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:24 |
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| Enthalten in: |
Current genomics - 24(2023), 5 vom: 20. Dez., Seite 330-335 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Motta, Isabella A [VerfasserIn] |
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| Links: |
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| Themen: |
Distal myopathy |
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| Anmerkungen: |
Date Revised 19.01.2024 published: Print Citation Status PubMed-not-MEDLINE |
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| doi: |
10.2174/0113892029257856231013115036 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM367258714 |
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| 245 | 1 | 0 | |a High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil |
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| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a © 2023 Bentham Science Publishers. | ||
| 520 | |a Background: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF) | ||
| 520 | |a Objective: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF responsible for limb girdle muscular dystrophy type 2R and distal muscular dystrophy | ||
| 520 | |a Methods: Genotyping analyses were performed by qPCR using customized probe complementary to the region with the duplication under analysis in the DYSF | ||
| 520 | |a Results: A total of 104 individuals were examined. c.5979dupA was identified in 48 (46.15%) individuals. Twenty-three (22%) were homozygotes, among whom 13 (56.5%) were female. A total of 91.3% (21) of homozygous individuals had a positive family history, and seven (30.4%) reported consanguineous marriages. Twenty-five (24%) individuals were heterozygous (25.8±16 years) for the same variant, among whom 15 (60%) were female. The mean CK level was 697 IU for homozygotes, 140.5 IU for heterozygotes and 176 IU for wild-type homo-zygotes. The weakness distribution pattern showed 17.3% of individuals with a proximal pattern, 13% with a distal pattern and 69.6% with a mixed pattern. Fatigue was present in 15 homozygotes and one heterozygote | ||
| 520 | |a Conclusion: The high prevalence of this variant in individuals from this small community can be explained by a possible founder effect associated with historical, geographical and cultural aspects | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Dysferlin | |
| 650 | 4 | |a distal myopathy | |
| 650 | 4 | |a dysferlinopathy | |
| 650 | 4 | |a genetic testing | |
| 650 | 4 | |a limb girdle muscular dystrophy | |
| 650 | 4 | |a miyoshi myopathy | |
| 700 | 1 | |a Gouveia, Maria L A |e verfasserin |4 aut | |
| 700 | 1 | |a Braga, Ana P M |e verfasserin |4 aut | |
| 700 | 1 | |a Andrade, Rafael S |e verfasserin |4 aut | |
| 700 | 1 | |a Montenegro, Mayra F F |e verfasserin |4 aut | |
| 700 | 1 | |a Gurgel, Sandra N |e verfasserin |4 aut | |
| 700 | 1 | |a Albuquerque, Keila M F |e verfasserin |4 aut | |
| 700 | 1 | |a Souto, Priscilla A N G |e verfasserin |4 aut | |
| 700 | 1 | |a Cardoso, Flávia P B F |e verfasserin |4 aut | |
| 700 | 1 | |a Araujo, Joseane S |e verfasserin |4 aut | |
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| 700 | 1 | |a da Silva, Carlos E P |e verfasserin |4 aut | |
| 700 | 1 | |a Gurgel, Pamella A S |e verfasserin |4 aut | |
| 700 | 1 | |a Feder, David |e verfasserin |4 aut | |
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