Chikumi H, Yamamoto T, Ohta Y, Nanba E, Nagata K, Ninomiya H, Narasaki K, Katoh T, Hisatome I, Ono K, Tanaka Y, Kuroda H, Ohgi S
Third Department of Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan.
J Hum Genet. 2000;45(2):115-8. doi: 10.1007/s100380050027.
Marfan syndrome (MFS; MIM #154700) is a connective tissue disorder characterized by cardiovascular, skeletal, and ocular abnormalities. The fibrillin-1 gene (FBN1; MIM no. 134797) on chromosome 15 was revealed to be the cause of Marfan syndrome. To date over 137 types of FBN1 mutations have been reported. In this study, two novel mutations and a recurrent de-novo mutation were identified in patients with MFS by means of single-strand conformational polymorphism (SSCP) analysis. The two novel mutations are a 4-bp deletion at nucleotide 2820-2823 and a G-to-T transversion at nucleotide 1421 (C474F), located on exon 23 and exon 11, respectively. A previously reported mutation at the splicing donor site of intron 2 (IVS2 G + 1A), which is predicted to cause exon skipping, was identified in a sporadic patient with classical MFS.
马凡综合征（MFS；MIM #154700）是一种结缔组织疾病，其特征为心血管、骨骼和眼部异常。15号染色体上的原纤蛋白-1基因（FBN1；MIM编号134797）被发现是马凡综合征的病因。迄今为止，已报道了超过137种FBN1突变类型。在本研究中，通过单链构象多态性（SSCP）分析，在马凡综合征患者中鉴定出两个新突变和一个复发性新生突变。这两个新突变分别是位于第23外显子的核苷酸2820 - 2823处的4碱基缺失和位于第11外显子的核苷酸1421处的G到T颠换（C474F）。在一名散发的典型马凡综合征患者中鉴定出先前报道的内含子2剪接供体位点突变（IVS2 G + 1A），预计该突变会导致外显子跳跃。
