RGD Reference Report - Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. - Rat Genome Database

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Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.

Authors: Valleix, S  Niel, F  Nedelec, B  Algros, MP  Schwartz, C  Delbosc, B  Delpech, M  Kantelip, B 
Citation: Valleix S, etal., Am J Hum Genet. 2006 Aug;79(2):358-64. Epub 2006 Jun 8.
RGD ID: 1598956
Pubmed: PMID:16826526   (View Abstract at PubMed)
PMCID: PMC1559477   (View Article at PubMed Central)
DOI: DOI:10.1086/505654   (Journal Full-text)

Congenital primary aphakia (CPA) is a rare developmental disorder characterized by the absence of lens, the development of which is normally induced during the 4th-5th wk of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histological criterion for CPA. So far, the genetic basis for this human condition has remained unclear. Here, we present the analysis of a consanguineous family with three siblings who had bilateral aphakia, microphthalmia, and complete agenesis of the ocular anterior segment. We show that a null mutation in the FOXE3 gene segregates and, in the homozygous state, produces the mutant phenotype in this family. Therefore, this study identifies--to our knowledge, for the first time--a causative gene for CPA in humans. Furthermore, it indicates a possible critical role for FOXE3 very early in the lens developmental program, perhaps earlier than any role recognized elsewhere for this gene.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Aphakia  IAGP 1598956DNA:nonsense mutation:cds:p.C240X (human)RGD 
Aphakia  ISOFOXE3 (Homo sapiens)1598956; 1598956DNA:nonsense mutation:cds:p.C240X (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Foxe3  (forkhead box E3)

Genes (Mus musculus)
Foxe3  (forkhead box E3)

Genes (Homo sapiens)
FOXE3  (forkhead box E3)


Additional Information