Key result
Novel FHL1 gene mutation linked to a new phenotype of stiffness, contractures, and proximal weakness.
Why the study?
Pathogenic variants in the FHL1 gene are associated with a range of phenotypes, but this child presented with previously undescribed features representing a new clinical phenotype.
Case Report (n=1)
Describes a novel clinical phenotype associated with an FHL1 gene mutation in a pediatric patient.
Broadens differential for pediatric stiffness and contractures; leaves open confirmation of this FHL1 phenotype in additional cases.
There is a range of phenotypes associated with pathogenic variants in the FHL1 gene, including X-linked dominant scapuloperoneal myopathy, X-linked myopathy with postural muscle atrophy, reducing body myopathy, Emery-Dreifuss muscular dystrophy, rigid-spine syndrome, and hypertrophic cardiomyopathy. This gene encodes the four-and-a-half LIM domain protein 1 which is highly expressed in skeletal and cardiac muscle. The function of this protein includes influencing cellular architecture, myoblast differentiation, mechanotransduction, and skeletal muscle fiber size. We report a case of a 6-year-old boy with a novel FHL1 gene mutation who presented to the neuromuscular clinic for evaluation of stiffness, joint contractures, and mild proximal weakness. Symptoms first noted in the newborn period have been slowly progressive. The child's presentation has not been described before and represents a new clinical phenotype within the spectrum of FHL1 -related disorders.
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Finch et al. (2025) conducted a case report in FHL1 gene mutation (n=1). Novel FHL1 gene mutation was evaluated on Clinical phenotype. A novel FHL1 gene mutation in a 6-year-old boy resulted in a new clinical phenotype characterized by stiffness, joint contractures, and mild proximal weakness.
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