title: 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.
authors.affiliation: INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France.
authors.forename: L
authors.initials: L
authors.lastname: Lequeux
authors.forename: M
authors.initials: M
authors.lastname: Rio
authors.forename: A
authors.initials: A
authors.lastname: Vigouroux
authors.forename: M
authors.initials: M
authors.lastname: Titeux
authors.forename: H
authors.initials: H
authors.lastname: Etchevers
authors.forename: F
authors.initials: F
authors.lastname: Malecaze
authors.forename: N
authors.initials: N
authors.lastname: Chassaing
authors.forename: P
authors.initials: P
authors.lastname: Calvas
mesh_terms: D000853:Anophthalmos / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009915:Orbit / Q000002:abnormalities; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; C486393:RAX protein, human; D014157:Transcription Factors
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