标题：Exome sequencing identified new mutations in a Marfan syndrome family
作者：Li, Guangxin; Yu, Jian; Wang, Kun; Wang, Bin; Wang, Minghai; Zhang, Shuguang; Qin, Shiyong; Yu, Zhenhai
作者机构：[Li, Guangxin; Wang, Kun; Wang, Bin; Wang, Minghai; Zhang, Shuguang; Qin, Shiyong; Yu, Zhenhai] Qianfoshan Hosp, Dept Vasc Surg, Jinan 250014, Shandon 更多
通讯作者地址：[Yu, ZH]Qianfoshan Hosp, Dept Vasc Surg, 16766 Jingshi Rd, Jinan 250014, Shandong, Peoples R China.
关键词：Exome sequencing; New mutations; Marfan syndrome; FBN1; RP1
摘要：Marfan syndrome is a common autosomal dominant hereditary connective tissue disorder. There is no cure for Marfan syndrome currently. Next-generation sequencing (NGS) technology is efficient to identify genetic lesions at the exome level. Here we carried out exome sequencing of two Marfan syndrome patients. Further Sanger sequencing validation in other five members from the same family was also implemented to confirm new variants which may contribute to the pathogenesis of the disease. Two new variants, including one nonsense SNP in the Marfan syndrome gene FBN1 and one missense mutation in exon 15 of LRP1, which may be related to the phenotype of the patients were identified. The exome sequencing analysis provides us a new insight into the molecular events governing pathogenesis of Marfan syndrome.