|A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family|
|Dong, Jiamei1,2; Bu, Juan1; Du, Wei3,4; Li, Yuan5; Jia, Yanlei6; Li, Jianchang5; Meng, Xiaoli7; Yuan, Minghui8; Peng, Xiaojuan8; Zhou, Aimin9; Wang, Lejin1|
|WOS标题词||Science & Technology|
|类目[WOS]||Biochemistry & Molecular Biology ; Ophthalmology|
|研究领域[WOS]||Biochemistry & Molecular Biology ; Ophthalmology|
|关键词[WOS]||EXTRACELLULAR-MATRIX ; MOLECULAR-GENETICS ; TGFBR2 MUTATIONS ; BINDING PROTEIN ; FIBRILLIN ; PHENOTYPES ; DISORDERS ; EXPRESSION ; COMPONENT ; PROBANDS|
Purpose: Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).
Methods: It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was dertermined with an ABI 3100 Genetic Analyzer.
Results: A previously unreported the missense mutation G214S (caused by a 640 A -> G heterozygous change) in FBN1 was identified in the Chinese family. The mutation was associated with the disease phenotype in patients, but not detected in their relatives or in the 100 normal controls.
Conclusions: This is the first report of molecular characterization of FBN1 in the MFS family of Chinese origin. Our results expand the spectrum of FBN1 mutations causing MFS and further confirm the role of FBN1 in the pathogenesis of MFS. Direct sequencing of the mutation in FBN1 may be used for diagnosis of MFS.
|项目编号||30950007 ; 7102160|
|资助机构||National Natural Science Foundation ; Beijing Natural Science Foundation|
|作者单位||1.Gen Hosp Second Artillery, Dept Ophthalmol, Beijing, Peoples R China|
2.188 PLA Hosp, Dept OENT, Chaozhou, Peoples R China
3.Cent Comm CPC, Party Sch, Dept Cardiol, Beijing, Peoples R China
4.Jianping Cty Hosp, Dept Ophthalmol, Liaoning, Peoples R China
5.Peking Univ, Hosp 3, Dept Ophthalmol, Key Lab Vis Loss & Restorat,Minist Educ, Beijing 100191, Peoples R China
6.Subei Peoples Hosp Jiangsu Prov, Dept Ophthalmol, Yangzhou, Jiangsu, Peoples R China
7.Yangzhou Univ, Clin Med Coll, Yangzhou, Jiangsu, Peoples R China
8.Municipal Hosp ZaoZhuang, Dept Ophthalmol, ZaoZhuang, Shandong, Peoples R China
9.Cleveland State Univ, Dept Chem, Clin Chem Program, Cleveland, OH 44115 USA
|Dong, Jiamei,Bu, Juan,Du, Wei,et al. A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family[J]. MOLECULAR VISION,2012,18(10-11):81-86.|
|APA||Dong, Jiamei.,Bu, Juan.,Du, Wei.,Li, Yuan.,Jia, Yanlei.,...&Wang, Lejin.(2012).A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.MOLECULAR VISION,18(10-11),81-86.|
|MLA||Dong, Jiamei,et al."A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family".MOLECULAR VISION 18.10-11(2012):81-86.|