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ACTA1 – Zebra Body Myopathy

One unrelated proband with zebra body myopathy exhibited hallmark histopathological features including rimmed vacuoles (HP:0003805) and nemaline bodies (HP:0003798), prompting candidate gene analysis of ACTA1. Sequencing identified a novel de novo c.1043T>A (p.Leu348Gln) variant in ACTA1, confirming its role in this phenotype (PMID:25747004).

Inheritance is autosomal dominant with a de novo event and no additional affected relatives. While the variant lies within the conserved actin-binding domain, no functional assays have been reported for c.1043T>A in zebra body myopathy. Further studies are needed to define the molecular mechanism and therapeutic targets. Key take-home: ACTA1 c.1043T>A (p.Leu348Gln) should be included in genetic testing panels for zebra body myopathy to guide diagnosis and counseling.

References

  • Neuromuscular disorders : NMD | 2015 | Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). PMID:25747004

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Single unrelated de novo case report (probands=1 [PMID:25747004]) with consistent zebra body myopathy histopathology.

Genetic Evidence

Limited

One proband with de novo c.1043T>A (p.Leu348Gln) variant matching phenotype ([PMID:25747004]).

Functional Evidence

Limited

No functional assays reported for the c.1043T>A variant in the context of zebra body myopathy.