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LMNA, ZMPSTE24, and LBR Are Not Mutated in Scleroderma

机译：LMNA、ZMPSTE24 LBR不是突变硬皮病

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摘要

Scleroderma is a rare multisystemic disease of unknown etiology presumed to develop in genetically predisposed patients. Since patients affected with scleroderma develop clinical features similar to those observed in some laminopathies, we decided to screen at the genomic level a cohort of 27 patients affected with either localized or systemic scleroderma for mutations in three lamin-related genes: LMNA, encoding A-type lamins; ZMPSTE24, encoding a protease involved in lamin A processing; and LBR, encoding the lamin B receptor. No mutation was retrieved, whereas 25 polymorphic sequence variations were identified, 7 of which were unreported. Functional analyses performed for three of these allowed exclusion of an impact on splicing. Multiplex ligation–dependent probe amplification analysis showed no LMNA deletion or duplication. Altogether our results suggest that LMNA, ZMPSTE24, and LBR sequence variations are not major genetic determinants involved in scleroderma pathogenesis.
机译：硬皮病是一种罕见的多系统疾病病因不明认为发展遗传倾向的患者。影响与硬皮病的临床开发在一些类似的特性laminopathies,我们决定屏幕的基因组水平影响一群27例与局部或系统性硬皮病在三个lamin-related基因突变:LMNA,编码a类型核纤层蛋白;蛋白酶参与核纤层蛋白处理;编码核纤层蛋白B受体。检索,而25多态序列变化,7的报道。三种允许排除影响拼接。放大显示没有LMNA删除或分析重复。LMNA、ZMPSTE24 LBR序列差异不是主要遗传因素参与硬皮病发病机制。

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