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Exome sequencing identified new mutations in a Marfan syndrome family

Guangxin Li1, Jian Yu2, Kun Wang1, Bin Wang1, Minghai Wang1, Shuguang Zhang1, Shiyong Qin1 and Zhenhai Yu1*

  • * Corresponding author: Zhenhai Yu

  • † Equal contributors

Author Affiliations

1 Department of Vascular Surgery, Qianfoshan Hospital, No.16766 Jingshi Road, Jinan 250014, Shandong, China

2 Department of Hepatobiliary Surgery, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China

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Diagnostic Pathology 2014, 9:25  doi:10.1186/1746-1596-9-25

Published: 31 January 2014


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.

Virtual slide webcite.

Exome sequencing; New mutations; Marfan syndrome; FBN1; RP1