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首页> 外文期刊>American journal of medical genetics, Part A >Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome
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Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome

机译：三代家庭在与胸主动脉瘤综合征相关的染色体2P22上具有新型连续基因缺失

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摘要

Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF‐?) activation. Dysregulation of the TGF‐? pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1 ) and Loeys–Dietz syndrome (LDS; TGFBR1 , TGFBR2 , TGFB2 , TGFB3 , SMAD2 , SMAD3 ). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings. LTBP1 is a component of the TGF‐? pathway that binds to fibrillin‐1 in the extracellular matrix rendering TGF‐? inactive. We describe a three‐generation family case series with a heterozygous ～5.1?Mb novel contiguous gene deletion of chromosome 2p22.3‐p22.2 involving 11 genes, including LTBP1 . The deletion has been identified in the proband, father and grandfather, who all have a phenotype consistent with a TAAS. Findings include thoracic aortic dilation, ptosis, malar hypoplasia, high arched palate, retrognathia, pes planus, hindfoot deformity, obstructive sleep apnea, and low truncal tone during childhood with joint laxity that progressed to reduced joint mobility over time. While the three affected individuals did not meet criteria for either MFS or LDS, they shared features of both. Although the deletion includes 11 genes, given the relationship between LTBP1, TGF‐?, and fibrillin‐1, LTBP1 stands out as one of the possible candidate genes for the clinical syndrome observed in this family. More studies are necessary to evaluate the potential role of LTBP1 in the pathophysiology of TAAS.
机译：潜在转化的生长因子结合蛋白质（LTBP）是一种细胞外基质糖蛋白的家族，其在转化生长因子β（TGF-β）活化的调节中起重要作用。 TGF的疑难解理 - ？途径已经涉及遗传性疾病的发病机制，遗传性疾病预测胸主动脉瘤综合征（TAAs），包括Marfan综合征（MFS; FBN1）和Loeys-Dietz综合征（LDS; TGFBR1，TGFBR2，TGFB2，TGFB3，Smad2，Smad3）。虽然这些综合征具有不同的临床标准，但它们共享临床特征，包括主动脉根扩张和肌肉骨骼发现。 LTBP1是TGF的组成部分 - ？在细胞外基质中结合成纤维蛋白-1的途径呈现TGF-？不活跃。我们描述了一种具有杂合〜5.1？MB新型连续基因缺失的三代家庭案例系列涉及11个基因的染色体2p22.3-p22.2，包括LTBP1。删除已经在证明书，父亲和祖父中确定了，他们都有一个与Taas一致的表型。调查结果包括胸部主动脉扩张，头晕，颧囊发育不全，高拱形腭，脾气暴躁，患者，后脚畸形，阻塞性睡眠呼吸暂停，以及儿童时期的低突发性，随着时间的推移而降低联合移动性。虽然三个受影响的个人没有符合MFS或LDS的标准，但它们的共同是两者的特征。虽然缺失包括11个基因，但鉴于LTBP1，TGF-α，纤维蛋白-1之间的关系，LTBP1作为该家庭观察到的临床综合征的可能候选基因之一。更多的研究是评估LTBP1在TAA的病理生理学中的潜在作用。

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