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Ectopia lentis in Loeys-Dietz syndrome type 4.
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-05-28 , DOI: 10.1002/ajmg.a.61633
Alan C Braverman 1 , Kevin J Blinder 2 , Sangeeta Khanna 3 , Marcia Willing 4
Affiliation  

Loeys‐Dietz syndrome is a heritable disorder of the connective tissue leading to multisystem involvement including craniofacial features, skeletal abnormalities, cutaneous findings and early‐onset and aggressive disease of the aorta and its branches. There are multiple types of Loeys‐Dietz syndrome related to pathogenic variants in TGFBR1 , TGFBR2 , SMAD3 , TGFB2 , and TGFB3 . Individuals with Loeys‐Dietz syndrome may be misdiagnosed as having Marfan syndrome due to shared phenotypic features and aortic root dilation. However, ectopia lentis has been an important discriminating feature, being unique to Marfan syndrome and not reported to be associated with Loeys‐Dietz syndrome. We report the case of a 46‐year‐old woman with Loeys‐Dietz syndrome type 4 due to a pathogenic variant in TGFB2 who was diagnosed with ectopia lentis at age 44. The patient underwent whole exome sequencing and no other pathogenic variants were found to explain the ectopia lentis. Our findings indicate that ectopia lentis may be an uncommon finding in Loeys‐Dietz syndrome type 4 and emphasize the importance of genetic testing in familial thoracic aortic aneurysm disease.

中文翻译:

Loeys-Dietz综合征4型的小扁豆。

Loeys-Dietz综合征是一种结缔组织的遗传性疾病,导致多系统受累,包括颅面特征,骨骼异常,皮肤发现以及主动脉及其分支的早发和侵袭性疾病。与TGFBR1TGFBR2SMAD3TGFB2TGFB3的致病变异有关的Loeys-Dietz综合征有多种类型。由于共有的表型特征和主动脉根部扩张,Loeys-Dietz综合征患者可能被误诊为马凡氏综合征。但是,lentopia眼镜是一个重要的区分特征,它是Marfan综合征所独有的,并且没有与Loeys-Dietz综合征相关的报道。我们报告了一名因TGFB2的病原体变异而在4岁时被诊断出患有扁桃体的46岁Loeys-Dietz综合征类型的妇女。该患者接受了全外显子组测序,未发现其他病原体解释lentect。我们的研究结果表明,在以4型Loeys-Dietz综合征为特征的患者中,轻度外翻可能并不常见,并强调了基因检测在家族性胸主动脉瘤病中的重要性。
更新日期:2020-07-23
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