Jin Chongfei, Yao Ke, Jiang Jin, Tang Xiajing, Shentu Xingchao, Wu Renyi
Eye Center, Second Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, China.
Mol Vis. 2007 Jul 24;13:1280-4.
To identify mutations in the fibrillin-1 gene (FBN1) and provide further information about genotype-phenotype correlations in Chinese patients with predominant ectopia lentis (EL) and marfanoid habitus.
Patients from seven Chinese families underwent complete physical, ophthalmic, and cardiovascular examination. Genomic DNA was extracted from leukocytes of peripheral blood from the patients. The 65 exons and flanking intronic sequences of FBN1 were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing.
Three novel mutations, c.203G>T in exon 2, c.502T>C in exon 5, and c.2096G>C in exon 16 as well as four known mutations, c.364C>T in exon 4, c.1633C>T in exon 13, c.1879C>T in exon 15, and c.4588C>T in exon37, were identified in FBN1.
We identified three novel mutations and four known mutations in FBN1 and found cysteine substitution highly related to EL. These results expand the mutation spectrum in FBN1 and enrich our knowledge of genotype-phenotype correlations due to FBN1 mutations. To our knowledge, this is the first report of cysteine residue loss in the unique NH2-terminal domain of fibrillin-1.
鉴定原纤维蛋白-1基因（FBN1）中的突变，并提供有关以晶状体异位（EL）和类马凡体型为主的中国患者基因型-表型相关性的更多信息。
对来自7个中国家庭的患者进行全面的体格、眼科和心血管检查。从患者外周血白细胞中提取基因组DNA。通过聚合酶链反应（PCR）扩增FBN1的65个外显子和侧翼内含子序列，并通过直接DNA测序筛选突变。
在FBN1中鉴定出3个新突变，分别为外显子2中的c.203G>T、外显子5中的c.502T>C和外显子16中的c.2096G>C，以及4个已知突变，分别为外显子4中的c.364C>T、外显子13中的c.1633C>T、外显子15中的c.1879C>T和外显子37中的c.4588C>T。
我们在FBN1中鉴定出3个新突变和4个已知突变，并发现半胱氨酸替代与EL高度相关。这些结果扩展了FBN1中的突变谱，并丰富了我们对FBN1突变导致的基因型-表型相关性的认识。据我们所知，这是关于原纤维蛋白-1独特NH2末端结构域中半胱氨酸残基缺失的首次报道。
