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Article

Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.

Molecular vision - 3 Apr 2010

Chograni Manèl, Chaabouni Myriam, Chelly Imen, Helayem Mohamed Bechir, Chaabouni-Bouhamed Habiba

Abstract excerpt

PURPOSE: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20376326
PMCID: PMC2848917

Genes

PITX3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.PMID 20376326Read ↗

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.Semantic proximity Read ↗

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Semantic proximity Read ↗

Identification of PITX3 mutations in individuals with various ocular developmental defects.Semantic proximity Read ↗

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Semantic proximity Read ↗

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.Semantic proximity Read ↗

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.Semantic proximity Read ↗

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Functional analysis of human mutations in homeodomain transcription factor PITX3.Semantic proximity Read ↗

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.Semantic proximity Read ↗

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Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.Semantic proximity Read ↗

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