Mutation p.Arg954Trp of KIF21A Causes Congenital Fibrosis of the Extraocular Muscles in a Chinese Family

ZHANG Xian-Qin , PENG Jian-Hong , TANG Zhao-Hui , XU Cheng-Qi , ZHOU Xin , GONG Shu-Xian , LIU Jing-Yu , WANG Qing , LIU Mu-Gen
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引用次数: 6

Abstract

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. In this study, we identified a Chinese family with CFEOM1 for four generations. Linkage analysis mapped the causative gene of the family to 12q with a Lod score 2.1 for polymorphic marker D12S85, where KIF21A is located. Direct DNA sequence analysis identified a 2860C→T change in exon 21, resulting in a tryptophan substitution for arginine in codon 954 of KIF21A. SSCP (single-stranded conformational polymorphism) analysis showed that mutation p.Arg954Trp of KIF21A co-segregated with the affected members, but was absent in the unaffected individuals in the family and 150 normal controls. Our results indicate that mutation p.Arg954Trp of the KIF21A is the genetic basis of the Chinese family with CFEOM1.

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KIF21A基因p.a arg954trp突变导致中国家族先天性眼外肌纤维化
先天性眼外肌纤维化1型(CFEOM1)是一种常染色体显性斜视疾病,与动眼神经缺陷有关。在这项研究中,我们确定了一个中国家庭四代人患有CFEOM1。连锁分析将该家族的致病基因定位为12q,多态性标记D12S85 (KIF21A所在)的Lod评分为2.1。直接DNA序列分析发现,在KIF21A的第21外显子发生了2860C→T的变化,导致954密码子上的精氨酸被色氨酸取代。SSCP(单链构象多态性)分析显示,KIF21A突变p.a arg954trp与患病成员共分离,但在家族中未患病个体和150名正常对照中不存在。结果表明,KIF21A基因p.a arg954trp突变是中国CFEOM1家族的遗传基础。
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