Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy

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• 作者：Mariana Gutierrez ; Isabelle Thiffault ; Kether Guerrero…
• 关键词：4H leukodystrophy ; Pol III (POLR3) ; related leukodystrophy ; POLR3A ; POLR3B ; Deletion
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：10
• 期：1
• 全文大小：1,280 KB
• 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Medicinal Chemistry;
• 出版者：BioMed Central
• ISSN：1750-1172

文摘

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.