A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

Neurogenetics. 2007 Jan;8(1):57-60. doi: 10.1007/s10048-006-0065-x. Epub 2006 Oct 10.


Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) are hypomyelinating disorders of the central nervous system with a very similar phenotype. PMD is an X-linked disorder caused by mutations in PLP1. PMLD is an autosomal recessive condition caused by mutations in GJA12. We report a 5-year-old girl with a complex neurological syndrome and severe hypomyelination on brain magnetic resonance imaging. She harbored a homozygous 34-bp deletion in the coding region of GJA12. There are no distinctive features for the differential diagnosis of PMD/PMLD. GJA12 should be analyzed in all patients without PLP1 mutations but should also be considered the initial genetic test in women and in patients with consanguineous parents.

Publication types

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

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Connexins / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Primers
  • Female
  • Genes, Recessive
  • Humans
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Pelizaeus-Merzbacher Disease / genetics*
  • Sequence Deletion*


  • Connexins
  • DNA Primers
  • connexin 47
  • DNA