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Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

Heinz Jungbluth1, Tom Cullup, Suzanne Lillis

  • 1Clinical Neuroscience Division, King's College, London, UK. Heinz.Jungbluth@gstt.nhs.uk

Neuromuscular Disorders : NMD
|November 26, 2009
PubMed

Insights

Dynamin 2 (DNM2) gene mutations can cause severe centronuclear myopathy, a rare muscle disorder. This study identifies a novel mutation linked to severe symptoms and cataracts, expanding the known disease spectrum.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Dynamin 2 (DNM2) mutations are linked to dominant centronuclear myopathy (CNM) and Charcot-Marie-Tooth Disease (CMT).
  • Severe CNM variants are often associated with mutations in the DNM2 pleckstrin homology (PH) domain.
  • Non-neurological symptoms like cataracts are known in DNM2-related CMT but not typically in DNM2-related CNM.

Observation:

  • A girl presented with congenital hypotonia, respiratory and feeding issues, delayed motor development, and progressive loss of ambulation.
  • She developed ptosis, external ophthalmoplegia, and bilateral cataracts.
  • Muscle biopsy revealed central nuclei, type 1 fiber hypotrophy, and fibrosis.

Findings:

  • Genetic analysis identified a novel heterozygous DNM2 mutation (c.1862T>C; p.Leu621Pro) in the PH domain.
  • This mutation was associated with a severe, progressive phenotype in the patient.
  • The patient died at 14 years old due to respiratory failure.

Implications:

  • This case expands the phenotypic spectrum of DNM2-related CNM.
  • Bilateral cataracts may serve as a clinical indicator for DNM2 gene involvement in CNM patients.
  • Understanding genotype-phenotype correlations in DNM2 mutations is crucial for diagnosis and management.

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