Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
Clin Genet. 2013 Jan;83(1):66-72. doi: 10.1111/j.1399-0004.2012.01846.x. Epub 2012 Feb 20.
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.
佩利兹-梅茨巴赫病是一种早发性脱髓鞘性脑白质营养不良。约 80%的 PMD 病例与髓鞘蛋白脂质蛋白 1（PLP1）基因的重复和突变有关。佩利兹-梅茨巴赫样病是一种遗传异质性常染色体隐性疾病，很少由缝隙连接蛋白 α12（GJA12/GJC2）基因突变引起。在一个由 19 个土耳其家庭组成的队列中研究了疾病的分子基础。本研究鉴定了 PLP1 基因近端和远端以及 PLP1 基因之外的新型染色体重排，显示至少在我们的队列中 PLP1 和 GJA12/GJC2 突变的频率相等，并提示存在进一步的遗传异质性。
