Confirmation of RAX gene involvement in human anophthalmia
Confirmation of RAX gene involvement in human anophthalmia
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DOI：
10.1111/j.1399-0004.2008.01078.x
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发表时间：
2008-10-01
影响因子：
3.5
通讯作者：
Calvas, P.
中科院分区：
文献类型：
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作者：
Lequeux, L.;Rio, M.;Calvas, P.
小眼症和无眼症是眼部发育异常的严重一端。一些基因的突变与综合征性和非综合征性无眼症有关。在此之前，RAX隐性突变与一例右侧无眼症、左侧小眼症和硬角膜患者有关。在这项研究中，我们报告了一种新的复合杂合RAX突变在儿童双侧无眼症的发现。这两个突变都位于外显子3。c.664delT是一个移帧缺失，预计会引入一个过早停止密码子（p.Ser222ArgfsX62）， c.909C > G是一个无义突变，具有类似的后果（p.Tyr303X）。这是第二例由RAX突变引起的眼失。这些发现证实，RAX在眼睛发育的早期阶段起着重要作用，并参与了人类无眼症。
Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia. Previously, RAX recessive mutations were implicated in a single patient with right anophthalmia, left microphthalmia and sclerocornea. In this study, we report the findings of novel compound heterozygous RAX mutations in a child with bilateral anophthalmia. Both mutations are located in exon 3. c.664delT is a frameshifting deletion predicted to introduce a premature stop codon (p.Ser222ArgfsX62), and c.909C > G is a nonsense mutation with similar consequences (p.Tyr303X). This is the second report of a patient with anophthalmia caused by RAX mutations. These findings confirm that RAX plays a major role in the early stages of eye development and is involved in human anophthalmia.