Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
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DOI：
10.1038/ng1261
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发表时间：
2003-12-01
期刊：
影响因子：
30.8
通讯作者：
Engle, EC
中科院分区：
文献类型：
--
作者：
Yamada, K;Andrews, C;Engle, EC
先天性眼外肌纤维化1型（CFEOM 1; OMIM #135700）是一种常染色体显性斜视疾病，与眼神经缺陷相关。我们发现CFEOM 1患者在KIF 21 A编码的驱动蛋白马达蛋白中存在杂合错义突变。我们在45名先证者中的44名中发现了6种不同的突变。主要的突变热点位于茎域，突出了KIF 21 A及其茎在眼轴形成中的重要新作用。
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.