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- Title
High frequency of GJA12/ GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
- Authors
Bilir, B; Yapici, Z; Yalcinkaya, C; Baris, I; Carvalho, CMB; Bartnik, M; Ozes, B; Eraksoy, M; Lupski, JR; Battaloglu, E
- Abstract
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. 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 α12 ( 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.
- Subjects
GENETIC mutation; PELIZAEUS-merzbacher disease; PROTEOLIPIDS; PROTEINS; BIOMOLECULES
- Publication
Clinical Genetics, 2013, Vol 83, Issue 1, p66
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/j.1399-0004.2012.01846.x