Yoo Eun-Hyung, Choi Seung Hyuk, Jang Shin Yi, Suh Yeon-Lim, Lee Inchul, Song Jae-Kwan, Choe Yeon Hyeon, Kim Jong-Won, Ki Chang-Seok, Kim Duk-Kyung
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam-gu, Seoul, Korea 135-710.
Ann Clin Lab Sci. 2010 Summer;40(3):278-84.
Non-syndromic familial thoracic aortic aneurysms and dissections (TAADs), inherited in an autosomal dominant manner in up to 19% of patients, are genetically heterogeneous. The ACTA2 gene, which encodes the vascular smooth muscle cell (SMC)-specific isoform of alpha-actin, is known to cause TAADs and occlusive vascular diseases, including coronary artery disease and premature ischemic stroke. We have investigated a Korean family with DeBakey type I aortic dissection related to pregnancy and a strong family history of TAADs. All affected family members underwent surgical repair of the ascending aorta. Other clinical features of familial TAAD, including inguinal hernias, iris flocculi, and livedo reticularis, were not observed. Histologic studies of aortic tissues showed medial degeneration and SMC hyperplasia in the aorta, consistent with previous observations. Molecular analyses of the ACTA2 gene showed a novel heterozygous missense mutation (c.76G>T; p.Asp26Tyr). Further analysis of a female patient and members of her family revealed that two affected sisters and her asymptomatic son had the same mutation. The novel Asp26Tyr mutation resides in SM alpha-actin subdomain 1 and is linked to TAAD with hypertrophy and disarray of SMCs and severe migraine, but not to livedo reticularis or iris flocculi. This study expands the spectrum of mutations of the ACTA2 gene by identifying a novel missense mutation. This is the first report of a pathologically- and genetically-confirmed family with TAAD in Korea.
非综合征性家族性胸主动脉瘤和主动脉夹层(TAAD)以常染色体显性方式遗传,在高达19%的患者中具有遗传异质性。已知编码α-肌动蛋白血管平滑肌细胞(SMC)特异性异构体的ACTA2基因会导致TAAD和闭塞性血管疾病,包括冠状动脉疾病和早发性缺血性中风。我们研究了一个与妊娠相关的DeBakey I型主动脉夹层且有TAAD家族病史的韩裔家族。所有受影响的家族成员均接受了升主动脉手术修复。未观察到家族性TAAD的其他临床特征,如腹股沟疝、虹膜絮状斑和网状青斑。主动脉组织的组织学研究显示主动脉中层变性和SMC增生,与先前观察结果一致。对ACTA2基因的分子分析显示一个新的杂合错义突变(c.76G>T;p.Asp26Tyr)。对一名女性患者及其家庭成员的进一步分析显示,两名受影响的姐妹和她无症状的儿子具有相同的突变。新的Asp26Tyr突变位于SMα-肌动蛋白亚结构域1,与伴有SMC肥大和排列紊乱的TAAD以及严重偏头痛相关,但与网状青斑或虹膜絮状斑无关。本研究通过鉴定一个新的错义突变扩展了ACTA2基因的突变谱。这是韩国首例经病理和基因证实的TAAD家族报告。