Confirmation of RAX gene involvement in human anophthalmia. - Inserm - Institut national de la santé et de la recherche médicale Access content directly
Journal Articles Clinical Genetics Year : 2008

Confirmation of RAX gene involvement in human 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.
Fichier principal
Vignette du fichier
RAX_Clin_Genet_accepted_2008.pdf (164.59 Ko) Télécharger le fichier
inserm-00322979_edited.pdf (866.85 Ko) Télécharger le fichier
Origin : Files produced by the author(s)
Origin : Files produced by the author(s)

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⟩
157 View
354 Download

Altmetric

Share

Gmail Facebook X LinkedIn More