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A TPM2 mutation causes congenital myopathy with fibre-type disproportion

Paulo José Lorenzoni1, Luciane Filla2, Renata Dal-Prá Ducci2

  • 1Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil. lorenzoni@ufpr.br.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|October 31, 2024
PubMed

Insights

This study details a rare case of congenital fibre-type disproportion (CFTD) in a 9-year-old girl, linked to a specific TPM2 gene variant. This finding expands understanding of genetic causes for early-onset muscle weakness.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Congenital fibre-type disproportion (CFTD) is a rare neuromuscular disorder characterized by distinct differences in muscle fiber types.
  • Early diagnosis and genetic identification are crucial for understanding disease progression and potential therapeutic targets.

Observation:

  • A 9-year-old girl presented with delayed motor milestones, respiratory issues, hypotonia, generalized muscle wasting, dysphagia, and facial weakness since birth.
  • Muscle biopsy of the biceps brachii confirmed congenital fibre-type disproportion (CFTD).

Findings:

  • Sanger sequencing identified a pathogenic variant (c.415_417delGAG; p.Glu139del) in the beta-tropomyosin (TPM2) gene.
  • This specific TPM2 gene variant (p.Glu139del) has been previously associated with CFTD in only one other reported case, highlighting its rarity.

Implications:

  • This case underscores the importance of genetic testing in diagnosing rare neuromuscular disorders like CFTD.
  • Further research into the TPM2 gene and its variants can elucidate mechanisms underlying congenital myopathies and inform future genetic counseling and treatment strategies.

Keywords:
TPM2Congenital myopathyMuscle fibre disproportionTropomyosin

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