Exome sequencing identified new mutations in a Marfan syndrome family.
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.
http://www.diagnosticpathology.diagnomx.eu/vs/1229110069114125.
Guangxin
G
Li
Jian
J
Yu
Kun
K
Wang
Bin
B
Wang
Minghai
M
Wang
Shuguang
S
Zhang
Shiyong
S
Qin
Department of Vascular Surgery, Qianfoshan Hospital, No,16766 Jingshi Road, Jinan 250014, Shandong, China. sdyzh56@163.com.
Zhenhai
Z
Yu
D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods*; D059472:Exome / Q000235:genetics; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D026503:Low Density Lipoprotein Receptor-Related Protein-1 / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D026503:Low Density Lipoprotein Receptor-Related Protein-1; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C475476:LRP1 protein, human