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A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
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A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
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A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
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Journal Article
A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
2023
Overview
Background
We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the
TPM3
gene presenting with adult-onset distal myopathy.
Case presentation
A 35-year-old Chinese male patient presented with a history of progressive finger weakness. Physical examination revealed differential finger extension weakness, together with predominant finger abduction, elbow flexion, ankle dorsiflexion and toe extension weakness. Muscle MRI showed disproportionate fatty infiltration of the glutei, sartorius and extensor digitorum longus muscles without significant wasting. Muscle biopsy and ultrastructural examination showed a non-specific myopathic pattern without nemaline or cap inclusions. Genetic sequencing revealed a novel heterozygous p.Ser246Leu variant (c.737C>T) of the
TPM3
gene which is predicted to be pathogenic. This variant is located in the area of the
TPM3
gene where the protein product interacts with actin at position Asp25 of actin. Mutations of
TPM3
in these loci have been shown to alter the sensitivity of thin filaments to the influx of calcium ions.
Conclusion
This report further expands the phenotypic spectrum of myopathies associated with
TPM3
mutations, as mutations in
TPM3
had not previously been reported with adult-onset distal myopathy. We also discuss the interpretation of variants of unknown significance in patients with
TPM3
mutations and summarise the typical muscle MRI findings of patients with
TPM3
mutations.
