Key result
Whole-exome sequencing links a novel MYH1 missense variant to recurrent rhabdomyolysis.
Why the study?
The majority of recurrent rhabdomyolysis cases remain unexplained despite recognized genetic causes, motivating investigation of novel candidate genes.
Case Report (n=1)
MYH1 is identified as a candidate gene for recurrent rhabdomyolysis in humans, extending findings previously observed in horses.
Answers are grounded in this paper and cite their sources.
MYH1 variant may explain recurrent rhabdomyolysis; hypothesis-generating and leaves open diagnostic utility pending replication.
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.
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Alsaif et al. (2021) conducted a case report in Recurrent rhabdomyolysis (n=1). MYH1 missense variant was evaluated on Identification of genetic etiology. A novel missense variant in the MYH1 gene was identified via whole-exome sequencing as a candidate cause for recurrent rhabdomyolysis in a human patient.
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