Key result
FHL1 c.672 C>G mutation expands the known genotype-phenotype spectrum of X-linked myopathy.
Why the study?
Mutations in the FHL1 gene are associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle, spanning six clinically distinct human myopathies.
Systematic Review (n=2)
FHL1 gene screening should be considered in male subjects with possible X-linked inheritance and increased CK values once dystrophinopathy is excluded, given the spectrum of skeletal and cardiac muscle involvement.
Supports FHL1 screening in males with suspected X-linked myopathy and elevated CK after dystrophinopathy exclusion; extends genotype-phenotype spectrum including cardiac involvement.
Objectives: Mutations in the FHL1 gene have been associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle. Six clinically distinct human myopathies can be recognized, including reducing body myopathy (RBM), X-linked dominant scapuloperoneal myopathy (SPM), X-linked myopathy with postural muscle atrophy (XMPMA), rigid spine syndrome (RSS), hypertrophic cardiomyopathy (HCM) and type 6 Emery- Dreifuss muscular dystrophy (EDMD). The core features of all described FHL1opathies are mostly scapuloperoneal muscle weakness, rigid spine, cardiac involvement, and cytoplasmic bodies in the muscle biopsy. Methods: We systematically reviewed the medical literature between the years 2000 and 2024 regarding the phenotype and genotype description of FHL1-associated myopathies. Results: Here, we report two novel patients presenting with an X-linked myopathy with postural muscle atrophy (XMPMA) caused by the c.672 C > G FHL1 gene mutation. Conclusion: When encountering these features in a patient, one may consider screening for an FHL1 mutation. The course ranges from a severe fatal course with early onset to very mild features with late onset. Once a dystrophinopathy has been excluded, increased CK values in male subjects with possible X-linked inheritance should always trigger FHL1 gene screening.
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Caputo et al. (2024) conducted a systematic review in FHL1-associated myopathies (n=2). The c.672 C > G FHL1 gene mutation was identified in 2 novel patients presenting with X-linked myopathy with postural muscle atrophy, expanding the known genotype-phenotype spectrum.
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