Kiselev, Artem, Vaz, Raquel, Knyazeva, Anastasia, Sergushichev, Alexey, Dmitrieva, Renata, Khudiakov, Aleksandr, Jorholt, John, Smolina, Natalia, Sukhareva, Ksenia, Fomicheva, Yulia et al (show 8 more authors)
(2019)
Truncating Variant in <i>Myof</i> Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.
FRONTIERS IN GENETICS, 10 (JUN).
608-.
Abstract
Even though genetic studies of individuals with neuromuscular diseases have uncovered the molecular background of many cardiac disorders such as cardiomyopathies and inherited arrhythmic syndromes, the genetic cause of a proportion of cardiomyopathies associated with neuromuscular phenotype still remains unknown. Here, we present an individual with a combination of cardiomyopathy and limb-girdle type muscular dystrophy where whole exome sequencing identified myoferlin (<i>MYOF</i>)-a member of the Ferlin protein family and close homolog of <i>DYSF</i>-as the most likely candidate gene. The disease-causative role of the identified variant c.[2576delG; 2575G>C], p.G859QfsTer8 is supported by functional studies <i>in vitro</i> using the primary patient's skeletal muscle mesenchymal progenitor cells, including both RNA sequencing and morphological studies, as well as recapitulating the muscle phenotype <i>in vivo</i> in zebrafish. We provide the first evidence supporting a role of <i>MYOF</i> in human muscle disease.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | myoferlin, haploinsufficiency, cardiomyopathy, muscular dystrophy, zebrafish |
| Divisions: | Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Infection, Veterinary and Ecological Sciences |
| Depositing User: | Symplectic Admin |
| Date Deposited: | 17 Jun 2021 09:13 |
| Last Modified: | 13 Oct 2023 05:01 |
| DOI: | 10.3389/fgene.2019.00608 |
| Open Access URL: | https://doi.org/10.3389/fgene.2019.00608 |
| Related URLs: | |
| URI: | https://livrepository.liverpool.ac.uk/id/eprint/3126699 |
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