MYH1 is a candidate gene for recurrent rhabdomyolysis in humans

Rhabdomyolysis is a serious medical condition characterized by muscle injury, and there are recognized genetic causes especially in recurrent forms. The majority of these cases, however, remain unexplained. Here, we describe a patient with recurrent rhabdomyolysis in whom extensive clinical testing...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2021-07, Vol.185 (7), p.2131-2135
Main Authors: Alsaif, Hessa S., Alshehri, Ali, Sulaiman, Raashda A., Al‐Hindi, Hindi, Guzmán‐Vega, Francisco J., Arold, Stefan T., Alkuraya, Fowzan S.
Format: Article
Language:English
Subjects:
Actin
Actins - genetics
Animals
Etiology
Genetic Predisposition to Disease
Horses - genetics
Humans
Mutation, Missense - genetics
MYH1
recurrent rhabdomyolysis
Rhabdomyolysis
Rhabdomyolysis - genetics
Rhabdomyolysis - pathology
Rhabdomyolysis - veterinary
rhabdomyolysis panel
WES reanalysis
Whole Exome Sequencing
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Summary:Rhabdomyolysis is a serious medical condition characterized by muscle injury, and there are recognized genetic causes especially in recurrent forms. The majority of these cases, however, remain unexplained. Here, we describe a patient with recurrent rhabdomyolysis in whom extensive clinical testing failed to identify a likely etiology. Whole‐exome sequencing revealed a novel missense variant in MYH1, which encodes a major adult muscle fiber protein. Structural biology analysis revealed that the mutated residue is extremely well conserved and is located in the actin binding cleft. Furthermore, immediately adjacent mutations in that cleft in other myosins are pathogenic in humans. Our results are consistent with the finding that MYH1 is mutated in rhabdomyolysis in horses and suggest that this gene should be investigated in cases with recurrent rhabdomyolysis.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62188