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

Bilir B., Yapici Z., Yalcinkaya C., Baris I., Carvalho C. M. B., Bartnik M., ...Daha Fazla

CLINICAL GENETICS, cilt.83, sa.1, ss.66-72, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 83 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1111/j.1399-0004.2012.01846.x
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.66-72
  • İstanbul Üniversitesi Adresli: Evet

Özet

Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CMB, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease. Clin Genet 2013: 83: 66-72. (C) John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2012 Pelizaeus-Merzbacher disease is an early onset dysmyelinating leukodystrophy. About 80% of PMD cases have been associated with duplications and mutations of the proteolipid protein 1 (PLP1) gene. Pelizaeus-Merzbacher-like disease is a genetically heterogeneous autosomal recessive disease and rarely caused by mutations in gap junction protein alpha 12 (GJA12/GJC2) gene. The molecular basis of the disease was investigated in a cohort of 19 Turkish families. This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations at least in our cohort, and suggested further genetic heterogeneity.