从头突变的 ACTA2 导致一种新的多系统平滑肌功能障碍综合征。
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
机构信息
Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
出版信息
Am J Med Genet A. 2010 Oct;152A(10):2437-43. doi: 10.1002/ajmg.a.33657.
Abstract
Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
摘要
平滑肌细胞 (SMCs) 通过收缩来执行许多生理功能，包括调节动脉中的血流和血压、瞳孔收缩、肠道蠕动和膀胱排空。这些器官中的 SMC 谱系以 SMC 同工型 α-肌动蛋白的细胞表达为特征，该蛋白由 ACTA2 基因编码。我们在此报告 ACTA2 中一种独特的从头突变，即 R179H，它导致一种综合征，其特征是全身 SMC 功能障碍，导致主动脉和脑血管疾病、固定性扩张的瞳孔、低张力性膀胱、旋转不良以及肠道和肺动脉高压的蠕动不良。
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