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High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

B Bilir1, Z Yapici, C Yalcinkaya

  • 1Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.

Clinical Genetics
|January 31, 2012
PubMed

Insights

Pelizaeus-Merzbacher disease, a dysmyelinating leukodystrophy, often stems from PLP1 gene mutations. This study found novel rearrangements and equal PLP1/GJA12 frequencies, suggesting broader genetic causes for Pelizaeus-Merzbacher-like disease.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Pelizaeus-Merzbacher disease (PMD) is an early-onset dysmyelinating leukodystrophy.
  • Approximately 80% of PMD cases are linked to proteolipid protein 1 (PLP1) gene mutations.
  • Pelizaeus-Merzbacher-like disease presents genetic heterogeneity, rarely involving the GJA12/GJC2 gene.

Purpose of the Study:

  • To investigate the molecular basis of Pelizaeus-Merzbacher and related disorders.
  • To identify genetic variations in Turkish families affected by these leukodystrophies.
  • To explore the genetic heterogeneity beyond PLP1 and GJA12/GJC2.

Main Methods:

  • Genetic analysis of 19 Turkish families with Pelizaeus-Merzbacher disease.
  • Screening for mutations and chromosomal rearrangements in PLP1 and GJA12/GJC2 genes.
  • Investigating genetic variations proximal and distal to the PLP1 gene.

Main Results:

  • Identification of novel chromosomal rearrangements near the PLP1 gene.
  • Observed equal frequencies of PLP1 and GJA12/GJC2 mutations within the studied cohort.
  • Discovery of genetic factors contributing to Pelizaeus-Merzbacher-like disease.

Conclusions:

  • The genetic basis of Pelizaeus-Merzbacher disease is more complex than previously understood.
  • PLP1 and GJA12/GJC2 mutations occur with similar frequency in this cohort.
  • Further genetic heterogeneity is implicated in Pelizaeus-Merzbacher and related leukodystrophies.

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