POLR3B基因的大片段外显子缺失导致POLR3相关脑白质营养不良。
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
作者信息
Gutierrez Mariana, Thiffault Isabelle, Guerrero Kether, Martos-Moreno Gabriel Á, Tran Luan T, Benko William, van der Knaap Marjo S, van Spaendonk Rosalina M L, Wolf Nicole I, Bernard Geneviève
机构信息
Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montréal, QC, H4A 3J1, Canada.
Center for Pediatric Genomic Medicine, Children's Mercy Hospitals, 2420 Pershing Rd, suite 421, Kansas City, MO, 64108, USA.
出版信息
Orphanet J Rare Dis. 2015 Jun 5;10:69. doi: 10.1186/s13023-015-0279-9.
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.
POLR3相关（或4H型）脑白质营养不良是一种常染色体隐性疾病，由POLR3A或POLR3B基因突变引起，具有神经和非神经特征。在一小部分患者中，未发现任一基因的突变或仅发现一个突变。对POLR3B cDNA的分析显示，在一个病例中外显子21 - 22存在大片段缺失，在另一个病例中外显子26 - 27存在大片段缺失。这些是导致POLR3相关脑白质营养不良的长片段缺失的首次报道，表明对于具有相符表型的患者，尤其是已鉴定出一个致病变异的患者，应研究POLR3A或POLR3B中的缺失和重复情况。
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