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A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report

Maohua Li1, Jiandi Huang1, Min Liu1

  • 1Department of Neurology, The Second Affiliated Hospital (Xinqiao Hospital), Army Medical University (Third Military Medical University), Chongqing, China.

Frontiers in Neurology
|February 13, 2023
PubMed

Insights

Bethlem myopathy, a collagen VI-related myopathy, can be caused by novel recessive COL6A3 gene mutations. This case highlights the genetic diversity of Bethlem myopathy, expanding its known clinical and genetic spectrum.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Bethlem myopathy (BM) is a collagen VI-related myopathy (COL6-RM) characterized by progressive muscle weakness and contractures.
  • Typically inherited in an autosomal dominant pattern, mutations in COL6A1, COL6A2, or COL6A3 genes are implicated.
  • While rare, some COL6 mutations present with facial weakness and Beevor's sign.

Observation:

  • A 50-year-old female patient exhibited childhood-onset facial weakness and progressive, asymmetrical proximal muscle weakness starting at age 30.
  • Neurological examination revealed bilateral facial weakness and a positive Beevor's sign.
  • Electromyography showed myopathic changes, and MRI confirmed muscle alterations consistent with COL6-RM.

Findings:

  • Whole-genome sequencing identified a novel heterozygous mutation, c.6817-2(IVS27)A>G, in the COL6A3 gene.
  • This specific mutation was found to be a recessive intron variation.
  • The findings indicate a new genetic cause for Bethlem myopathy.

Implications:

  • This case expands the known genetic heterogeneity of Bethlem myopathy.
  • It broadens the clinical spectrum of COL6-RM, including recessive inheritance patterns.
  • Understanding these novel mutations is crucial for accurate diagnosis and genetic counseling in collagen VI-related myopathies.
Keywords:
Bethlem myopathyCOL6-RDCOL6A3muscle MRImuscular dystrophy

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