Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation

Mol Genet Genomic Med. 2020 Mar;8(3):e1129. doi: 10.1002/mgg3.1129. Epub 2020 Jan 17.

Abstract

Background: Deafness, dystonia, and cerebral hypomyelination (DDCH) is an X-linked disorder due to hemizygous mutations of BCAP31.

Methods: We report an 8-year-old boy with DDCH who possibly accompanied mitochondrial dysfunction. Clinical evaluation, respiratory chain enzyme assay, and whole exome sequencing analysis were performed.

Results: Mitochondrial dysfunction was suspected by respiratory chain enzyme assay on his cultured skin fibroblasts which showed significantly decreased complex I enzyme activity. Whole exome sequencing analysis revealed a recurrent BCAP31 mutation (c.97C>T:p.Gln33*) which confirmed the diagnosis of DDCH for the patient.

Conclusion: We speculate that mitochondrial dysfunction may be a feature in patients with DDCH.

Keywords: BCAP31; DDCH; mitochondrial dysfunction.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / pathology
  • Cells, Cultured
  • Child
  • Deafness / genetics*
  • Deafness / pathology
  • Demyelinating Diseases / genetics*
  • Demyelinating Diseases / pathology
  • Dystonia / genetics*
  • Dystonia / pathology
  • Fibroblasts / metabolism
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mitochondria / metabolism*
  • Syndrome

Substances

  • BCAP31 protein, human
  • Membrane Proteins