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Novel FHL1 mutation in a family with reducing body myopathy
Tobias Schreckenbach1, Wolfram Henn, Wolfram Kress
1Institute of Neuropathology, University Hospital Aachen, Aachen, Germany.
Introduction:
Reducing body myopathy is a rare X-linked myopathy. It is characterized by intracytoplasmic inclusions that stain with menadione-nitroblue tetrazolium. It is caused by mutations in the FHL1 gene, which encodes the four-and-a-half LIM domain 1 protein (FHL1).
Methods:
We performed a clinical, muscle MRI, and histopathological characterization and immunoblot and genetic analysis of the FHL1 protein in a family with 4 individuals affected by reducing body myopathy.
Results:
We identified a novel missense mutation in FHL1 (c.449G>C; p.C150S). The patients presented with asymmetric proximal weakness and scoliosis. Both of the boys had a more severe course with earlier onset, contractures, and death due to heart failure at 14 and 18 years of age, respectively. MRI revealed fatty infiltration of posteromedial thigh and paraspinal muscles. Histopathological findings showed FHL1-immunoreactive inclusions. Immunoblot analysis revealed a 50% reduction of FHL1 protein.
Conclusion:
In this study we highlighted diagnostic clues in this myopathy and compared our data with the literature.
Insights
Reducing body myopathy, caused by FHL1 gene mutations, presents with muscle weakness and distinct inclusions. This study identified a novel mutation and detailed clinical and pathological findings in an affected family.
Area of Science:
- Genetics
- Neurology
- Pathology
Background:
- Reducing body myopathy is a rare X-linked myopathy characterized by intracytoplasmic inclusions.
- It is caused by mutations in the FHL1 gene, encoding the four-and-a-half LIM domain 1 protein (FHL1).
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