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

Autor: Bilir, B, Yapici, Z, Yalcinkaya, C, Baris, I, Carvalho, CMB, Bartnik, M, Ozes, B, Eraksoy, M, Lupski, JR, Battaloglu, E
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Zdroj: Clinical Genetics; Jan2013, Vol. 83 Issue 1, p66-72, 7p, 1 Black and White Photograph, 1 Diagram, 2 Charts, 1 Graph
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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