Braverman Alan C, Blinder Kevin J, Khanna Sangeeta, Willing Marcia
Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.
The Retina Institute, St. Louis, Missouri, USA.
Am J Med Genet A. 2020 Aug;182(8):1957-1959. doi: 10.1002/ajmg.a.61633. Epub 2020 May 28.
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.
洛伊斯-迪茨综合征是一种遗传性结缔组织疾病，可导致多系统受累，包括颅面特征、骨骼异常、皮肤表现以及主动脉及其分支的早发性和侵袭性疾病。有多种类型的洛伊斯-迪茨综合征与TGFBR1、TGFBR2、SMAD3、TGFB2和TGFB3的致病变异有关。由于存在共同的表型特征和主动脉根部扩张，洛伊斯-迪茨综合征患者可能被误诊为患有马凡综合征。然而，晶状体异位一直是一个重要的鉴别特征，它是马凡综合征所特有的，且未报道与洛伊斯-迪茨综合征相关。我们报告了一例46岁女性，因TGFB2基因的致病变异患有4型洛伊斯-迪茨综合征，她在44岁时被诊断为晶状体异位。该患者接受了全外显子测序，未发现其他致病变异来解释晶状体异位。我们的研究结果表明，晶状体异位在4型洛伊斯-迪茨综合征中可能是一种不常见的表现，并强调了基因检测在家族性胸主动脉瘤疾病中的重要性。
