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

Authors


Esra Battaloglu, PhD, Department of Molecular Biology and Genetics, Bogazici University, Bebek, Istanbul 34342, Turkey. Tel.: +90 212 359 6883; fax: +90 212 287 2468; e-mail: battalog@boun.edu.tr

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.

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