Department of Cardiovascular Surgery, The First Affiliated Hospital, Jinan University, Guangzhou, China.
Department of Cardiothoracic Surgery, The Second People's Hospital of Foshan, Foshan, China.
Genet Res (Camb). 2022 Apr 5;2022:3556302. doi: 10.1155/2022/3556302. eCollection 2022.
Marfan syndrome (MFS) is a connective tissue disease involving multiple systems, with thoracic aortic aneurysm (TAA) as the most common life-threatening manifestation.
A pedigree with TAA was investigated, and peripheral venous blood was extracted from six family members. After whole exome sequencing (WES) and chromosomal microarray analysis (CMA) in these individuals, bioinformatics and inheritance analyses were performed.
WES revealed a novel, small, 0.76 Mb microdeletion in 15q21.1, which cosegregated with the disease phenotype in the family and led to the haploinsufficiency of the fibrillin 1 () gene, which is associated with MFS. This small copy number variant (CNV) was confirmed by CMA.
Our study expands the phenotypic spectrum of the pathogenic CNV associated with MFS, thereby facilitating clinical genetic diagnosis and future genetic counseling for this family.
马凡综合征（MFS）是一种涉及多个系统的结缔组织疾病，其最常见的危及生命的表现为胸主动脉瘤（TAA）。
对一个具有 TAA 的家系进行了研究，从六名家系成员中提取外周静脉血。对这些个体进行全外显子组测序（WES）和染色体微阵列分析（CMA）后，进行了生物信息学和遗传分析。
WES 显示 15q21.1 处存在一个新的、小的、0.76Mb 微缺失，该缺失与家系中的疾病表型共分离，并导致与 MFS 相关的原纤维蛋白 1（）基因的杂合不足。CMA 证实了该小拷贝数变异（CNV）的存在。
本研究扩展了与 MFS 相关的致病性 CNV 的表型谱，从而有助于该家系的临床遗传诊断和未来的遗传咨询。
