Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles
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DOI：
10.1007/s10384-005-0243-7
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发表时间：
2005-11-01
影响因子：
2.4
通讯作者：
Maruo, T
中科院分区：
文献类型：
--
作者：
Shimizu, S;Okinaga, A;Maruo, T
目的：报道3个日本家族中部分成员患有先天性眼外肌纤维化1型（CFEOM1）的KIF21A基因复发突变，并描述其临床特征。为了检测突变，我们确定了外显子8，20和21的DNA序列和剪接位点的KIF21A基因。结果：所有受影响的成员有一个杂合突变的KIF21A基因外显子21（R954W）。临床上，每个病人都有先天性双侧上睑下垂，一个inforducted主要位置的每只眼睛，并无法提高任何一只眼睛以上midline.Conclusions：KIF21A基因突变R954W检测在本研究中筛选的患者CFEOM1，所有这些人都是日本人，反映了类似的报告，从欧洲，美国，中东和日本。我们认为，KIF21A基因的突变有助于CFEOM1的发展，无论种族如何。我们还发现，KIF21A基因突变位点的定界使我们能够有效地检测KIF21A基因突变，尽管有大量的KIF21A基因外显子。
Purpose: To report recurrent mutation of the KIF21A gene in three Japanese families in which some members have congenital fibrosis of the extraocular muscles type 1 (CFEOM1), and to describe the clinical characteristics of the families.Methods: Standard ocular examinations were performed on 18 normal and affected members of three unrelated families. To detect mutations, we determined the DNA sequence of exons 8, 20, and 21 and the splice sites of the KIF21A gene.Results: All affected members had a heterozygous mutation of the KIF21A gene in exon 21 (R954W). Clinically, each patient had congenital bilateral ptosis, an infraducted primary position of each eye, and the inability to raise either eye above midline.Conclusions: The KIF21A gene mutation R954W was detected in the patients with CFEOM1 screened in this study, all of whom were Japanese, reflecting similar reports from Europe, America, the Middle East, and Japan. We suggest that mutations of the KIF21A gene contribute to the development of CFEOM1 regardless of ethnicity. We also found that the delimitation of the KIF21A gene mutation site enabled us to efficiently detect the KIF21A gene mutation despite the large number of KIF21A gene exons.