Congenital myopathy and epidermolysis bullosa due to PLEC variant

Neuromuscul Disord. 2021 Nov;31(11):1212-1217. doi: 10.1016/j.nmd.2021.09.009. Epub 2021 Sep 30.

Abstract

We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for variant classification in genetic diagnostics. A thorough reassessment of the patient revealed mild skin blistering (epidermolysis bullosa simplex, EBS). This illustrates the importance of deep phenotyping of neuromuscular patients.

Keywords: Congenital myopathy; Epidermolysis bullosa; Plectinopathy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Epidermolysis Bullosa Simplex / genetics*
  • Homozygote
  • Humans
  • Male
  • Mutation
  • Myotonia Congenita / genetics*
  • Pedigree
  • Phenotype
  • Plectin / genetics*

Substances

  • PLEC protein, human
  • Plectin