Confirmation of RAX gene involvement in human anophthalmia. - Archive ouverte HAL Access content directly
Journal Articles Clinical Genetics Year : 2008

Confirmation of RAX gene involvement in human anophthalmia.

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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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Origin : Files produced by the author(s)
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Dates and versions

inserm-00322979 , version 1 (19-09-2009)

Identifiers

Cite

L. Lequeux, Marlène Rio, Armelle Vigouroux, Matthias Titeux, Heather C. Etchevers, et al.. Confirmation of RAX gene involvement in human anophthalmia.: RAX mutations in anophthalmia. Clinical Genetics, 2008, 74 (4), pp.392-395. ⟨10.1111/j.1399-0004.2008.01078.x⟩. ⟨inserm-00322979⟩
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