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Article

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.

Nature genetics - 1 Jun 1998

Semina E V, Ferrell R E, Mintz-Hittner H A, Bitoun P, Alward W L, Reiter R S, Funkhauser C, Daack-Hirsch S, Murray J C

Abstract excerpt

We report here the identification of a new human homeobox gene, PITX3, and its involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans. The PITX3 gene is the human homologue of the mouse Pitx3 gene and is a member of the RIEG/PITX homeobox gene family. The protein encoded by PITX3 shows 99% amino-acid identity to the mouse protein, with 100% identity in the homeodomain and...

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Identifiers

PMID: 9620774
DOI: 10.1038/527

Genes

PITX3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.PMID 9620774Read ↗

Zebrafish pitx3 is necessary for normal lens and retinal development.Semantic proximity Read ↗

Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene.Semantic proximity Read ↗

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

Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19.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 ↗

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

A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice.Semantic proximity Read ↗

Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.Semantic proximity Read ↗

Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation.Semantic proximity Read ↗

PITX2 deficiency and associated human disease: insights from the zebrafish model.Semantic proximity Read ↗

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.Semantic proximity Read ↗

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