Ontology highlight
ABSTRACT:
SUBMITTER: Chograni M
PROVIDER: S-EPMC2848917 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Chograni Manèl M Chaabouni Myriam M Chelly Imen I Helayem Mohamed Bechir MB Chaabouni-Bouhamed Habiba H
Molecular vision 20100403
<h4>Purpose</h4>The PITX3 (pituitary homeobox 3) gene encodes for a homeobox bicoid-like transcription factor. When one allele is mutated, it leads to dominant cataract and anterior segment mesenchymal dysgenesis in humans. When both copies are mutated, homozygous mutation contributes to microphtalmia with brain malformations. In the current study, a family with autosomal recessive congenital cataract (ARCC) associated with mental retardation (MR) was examined to identify PITX3 mutations.<h4>Met ...[more]