Mutations in SOX2 cause anophthalmia
Mutations in SOX2 cause anophthalmia
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DOI：
10.1038/ng1120
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发表时间：
2003-04-01
期刊：
影响因子：
30.8
通讯作者：
FitzPatrick, DR
中科院分区：
文献类型：
--
作者：
Fantes, J;Ragge, NK;FitzPatrick, DR
在一名患有t（3;11）（q26.3;p11.2）并伴有双侧无眼症的儿童中，在3q断裂点处发现了一种含有SOX 2的亚显微缺失。随后的SOX 2突变分析确定了35例无眼症患者中的4例（11%）发生了SOX 2的新生截短突变。在所有病例中，双眼均受到已确定突变的影响。
A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.