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High frequency of GJA12 / GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease
Author(s) -
Bilir B,
Yapici Z,
Yalcinkaya C,
Baris I,
Carvalho CMB,
Bartnik M,
Ozes B,
Eraksoy M,
Lupski JR,
Battaloglu E
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2012.01846.x
Subject(s) - leukodystrophy , genetics , proteolipid protein 1 , gene , biology , mutation , disease , medicine , pathology , myelin , myelin basic protein , endocrinology , central nervous system
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 α 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.