A novel mutation in fibrillin-1 gene identified in a Chinese family with marfan syndrome

作者：Liu, Dan-Li; Cao, Juan-Hui; Yang, Jie; He, Fen; Wang, Yun; Fan, Ning; Liu, Xu-Yang^*

来源：International Journal of Clinical and Experimental Medicine, 2015, 8(5): 7419-7424.

• Marfan syndrome
• fibrillin-1
• genetic analysis
• exons
• PCR
• mutation

Marfan syndrome (MFS) is an autosomal dominant inheritary disorder of the connective tissue. We report clinical features of a Chinese family with MFS and identify mutations in fibrillin-1 gene (FBN1). In this study, all three members of this family underwent complete ophthalmologic examinations. Two of the three members were diagnosed with MFS. Molecular genetic analysis was performed on the three members. All coding exons of FBN1 were amplified by polymerase chain reaction (PCR). The amplified products were sequenced and compared with a reference sequence in the database. Possible structural and functional changes of the protein induced by amino acids variance were predicted by bioinformatic analysis. A novel heterozygous mutation c.4504 T>A (p.C1502S) in exon 36 was identified in the two affected members, but not in the unaffected member. To our knowledge, this FBN1 mutation has not been reported beforein MFS or other patients.

• 出版日期2015
• 单位深圳市眼科医院; 暨南大学; 四川大学; 生物治疗国家重点实验室; 南昌大学