Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy
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DOI：
10.1186/s13023-015-0279-9
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发表时间：
2015-06-05
影响因子：
3.7
通讯作者：
Bernard, Genevieve
中科院分区：
文献类型：
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作者：
Gutierrez, Mariana;Thiffault, Isabelle;Bernard, Genevieve
POLR 3相关（或4 H）脑白质营养不良是由POLR 3A或POLR 3B突变引起的常染色体隐性遗传疾病，其特征在于神经学和非神经学特征。在一小部分患者中，两个基因都没有突变或只有一个突变被发现。POLR 3B cDNA分析显示，在一个病例中，外显子21-22有大量缺失，在另一个病例中，外显子26-27有大量缺失。这些是第一次报告的长缺失导致POLR 3相关的脑白质营养不良，这表明POLR 3A或POLR 3B的缺失和重复应在具有相容表型的患者中进行研究，特别是如果已经鉴定出一种致病性变体。
POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only one mutation is found. Analysis of the POLR3B cDNA revealed a large deletion of exons 21-22 in one case and of exons 26-27 in another case. These are the first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions and duplications in POLR3A or POLR3B should be investigated in patients with a compatible phenotype, especially if one pathogenic variant has been identified.