Tetralogy of Fallot genes genetic variation heart diseases whole exome sequencing
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摘要

RATIONALE:Familial recurrence studies provide strong evidence for a genetic component to the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease phenotype. Rare genetic variants have been identified as important contributors to the risk of congenital heart disease, but relatively small numbers of TOF cases have been studied to date.
OBJECTIVE:We used whole exome sequencing to assess the prevalence of unique, deleterious variants in the largest cohort of nonsyndromic TOF patients reported to date.
METHODS AND RESULTS:Eight hundred twenty-nine TOF patients underwent whole exome sequencing. The presence of unique, deleterious variants was determined; defined by their absence in the Genome Aggregation Database and a scaled combined annotation-dependent depletion score of ≥20. The clustering of variants in 2 genes, NOTCH1 and FLT4, surpassed thresholds for genome-wide significance (assigned as P

译文

基本原理: 家族性复发研究为偶发性、非综合征性法洛四联症 (TOF) 的遗传因素提供了强有力的证据,后者是最常见的紫绀型先天性心脏病表型。罕见的基因变异已被确定为先天性心脏病风险的重要因素,但迄今为止研究的 TOF 病例数量相对较少。
目的: 我们使用全基因组测序来评估迄今为止报告的最大的非综合征性 TOF 患者队列中独特的有害变异的患病率。
方法和结果: 800 例 TOF 患者接受了全基因测序。确定了独特的有害变异的存在; 由它们在基因组聚合数据库中的缺失和 ≥ 20 的缩放组合注释依赖性消耗分数来定义。2 个基因的变异聚类,NOTCH1 和 FLT4,超过了全基因组显著性的阈值 (分配为 P

Tetralogy of Fallot

儿科 先天性心脏病 疾病
概述  :  

法洛四联症 (TOF)是婴儿期后最常见的青紫型先天性心脏病,约占所有先天性心脏病的12%。法洛四联症由4种畸形组成,右心室流出道梗阻、室间隔缺损、主动脉骑跨、右心室肥厚,此外本病可合并其他心血管畸形,如25%的法洛四联症患儿为右位型主动脉弓;其他如左上腔静脉残留、冠状动脉异常、房间隔缺损、动脉导管未闭、肺动脉瓣缺如等。病理解剖右心室流出道梗:狭窄范围可自右心室漏斗部入口至左、右肺动脉分支。可为漏斗部狭窄、动脉瓣狭窄或两者同时存在。常有肺动脉瓣环、肺动脉总干的发育不良和肺动脉分支的

tetralogy    英 /tɪ'trælədʒɪ/  美 /te'trælədʒi, tə-/

释    义   n. 四部曲;四联剧

例    句   The percutaneous balloon dilatation of the stenotic right outflow tract is one of the effective palliative therapies for infants with tetralogy of Fallot. 经皮球囊导管扩张狭窄的右心室流出口,是对法洛四联症患儿合并缺氧发作的有效姑息疗法之一。

 

Fallot

释    义   n. (Fallot)人名;(法)法洛

例    句   Cardiac defects included 63 Fallot's Tetralogy, 5 double-outlet of right ventricle, 4 anomalous pulmonary venous and 10 other defects.  病种包括法洛四联症63例,右心室双出口5例,肺静脉畸形引流4例,其他病变10例。

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