Exome sequencing identified new mutations in a Marfan syndrome family

Diagnostic Pathology

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

[1] Department of Vascular Surgery, Qianfoshan Hospital, No.16766 Jingshi Road, Jinan 250014, Shandong, China;Department of Hepatobiliary Surgery, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China

关键词: RP1;    FBN1;    Marfan syndrome;    New mutations;    Exome sequencing;   

Others  :  803229
DOI  :  10.1186/1746-1596-9-25

 received in 2013-11-24, accepted in 2014-01-11,  发布年份 2014

【 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.

Virtual slide

http://www.diagnosticpathology.diagnomx.eu/vs/1229110069114125 webcite.

【 授权许可】

   
2014 Li et al.; licensee BioMed Central Ltd.

【 图 表 】

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