Feb 4, 2014

Exome sequencing identified new mutations in a Marfan syndrome family

Diagnostic Pathology
Guangxin LiZhenhai Yu

Abstract

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.

Mentioned in this Paper

Pathogenic Aspects
Biochemical Pathway
Pathogenesis
Mutation, Nonsense
Marfan Syndrome
Exons
Genetic Screening Method
DSC2 gene
Aneurysm
Vision

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