Back to Search
Start Over
Identification of novel FHL1mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients
- Source :
- Journal of Human Genetics; 20230101, Issue: Preprints p1-8, 8p
- Publication Year :
- 2023
-
Abstract
- Mutations in the FHL1gene can be associated with a variety of X-linked myopathies and cardiomyopathies, among which X-linked dominant scapuloperoneal myopathy is a rare phenotype. We collected the clinical data of two unrelated Chinese patients with X-linked scapuloperoneal myopathy and analyzed their clinical, pathological, muscle imaging, and genetic features. Both patients were characterized by scapular winging, bilateral Achilles tendon contractures, and weakness in shoulder-girdle and peroneal muscles. Muscle biopsy revealed myopathic changes, and no reducing bodies were found. Muscle magnetic resonance imaging was dominated by fatty infiltration, with minor edema-like findings. Genetic analysis revealed two novel mutations in the FHL1gene: c.380T > C (p.F127S) and c.802C > T (p.Q268*), which were located in the LIM2 domain and the C-terminal sequence, respectively. To our knowledge, this is the first report of X-linked scapuloperoneal myopathy in the Chinese population. Our findings broadened the genetic and ethnic spectrum of FHL1-related disorders and proposed to look for variants in the FHL1gene when scapuloperoneal myopathy is observed in the clinical work.
Details
- Language :
- English
- ISSN :
- 14345161 and 1435232X
- Issue :
- Preprints
- Database :
- Supplemental Index
- Journal :
- Journal of Human Genetics
- Publication Type :
- Periodical
- Accession number :
- ejs62407133
- Full Text :
- https://doi.org/10.1038/s10038-023-01138-0