Key result
A novel hemizygous c.764G>C missense mutation in exon 8 of the FHL1 gene was identified in a 14-year-old boy presenting with predominantly distal myopathy and hypertrophic cardiomyopathy.
Case Report (n=1)
This case expands the phenotypic spectrum of FHL1 mutations to include predominantly distal myopathy with hypertrophic cardiomyopathy.
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Suggests FHL1 testing in boys with distal myopathy plus HCM; extends phenotypic spectrum but remains hypothesis-generating.
FHL1 gene mutations are associated with reducing body myopathy, X-linked myopathy with postural muscle atrophy, scapuloperoneal myopathy, Emery-Dreifuss muscular dystrophy, and isolated hypertrophic cardiomyopathy. We describe a boy with a family history consistent with X-linked distal myopathy/cardiomyopathy. The boy first presented at age 14 years and was found to have distal wasting and weakness. Echocardiogram revealed hypertrophic cardiomyopathy. Muscle biopsy showed a vacuolar pathology with no reducing bodies. Sequencing of FHL1 revealed a novel hemizygous c.764G>C missense mutation in exon 8. This is the first report of a predominantly distal myopathy with hypertrophic cardiomyopathy occurring secondary to an FHL1 mutation.
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D’Arcy et al. (2014) conducted a case report in X-linked recessive distal myopathy with hypertrophic cardiomyopathy (n=1). FHL1 gene mutation (hemizygous c.764G>C missense mutation in exon 8) was evaluated on Clinical and genetic findings. A novel hemizygous c.764G>C missense mutation in exon 8 of the FHL1 gene was identified in a 14-year-old boy presenting with predominantly distal myopathy and hypertrophic cardiomyopathy.
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