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Confirmation of RAX gene involvement in human anophthalmia.: RAX mutations in anophthalmia

Abstract : 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.
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https://www.hal.inserm.fr/inserm-00322979
Contributor : Heather Etchevers <>
Submitted on : Saturday, September 19, 2009 - 7:00:29 AM
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L. Lequeux, Marlène Rio, Armelle Vigouroux, Matthias Titeux, Heather Etchevers, et al.. Confirmation of RAX gene involvement in human anophthalmia.: RAX mutations in anophthalmia. Clinical Genetics, Wiley, 2008, 74 (4), pp.392-395. ⟨10.1111/j.1399-0004.2008.01078.x⟩. ⟨inserm-00322979⟩

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