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Article

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

Human molecular genetics - 1 Sept 2000

Kozlowski K, Walter M A

Abstract excerpt

The autosomal dominant disorders iris hypolasia (IH), iridogoniodysgenesis syndrome (IGDS) and Axenfeld-Rieger syndrome (ARS) are characterized by maldevelopment of the anterior segment of the eye associated with an increased risk of early-onset glaucoma. IH, IGDS and ARS are allelic disorders, as all three can result from mutations of the transcription factor PITX2. IH is the mildest of the three, whereas ARS...

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Identifiers

PMID: 10958652
DOI: 10.1093/hmg/9.14.2131

Genes

PITX2

Provenance

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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Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.PMID 10958652Read ↗

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Analysis of Mutations of the<i>PITX2</i>Transcription Factor Found in Patients with Axenfeld-Rieger SyndromeSemantic proximity Read ↗

A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.Semantic proximity Read ↗

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

FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma.Semantic proximity Read ↗

Molecular and developmental mechanisms of anterior segment dysgenesis.Semantic proximity Read ↗

Haploinsufficiency of PITX2 in Four Chinese Families With Axenfeld-Rieger Syndrome.Semantic proximity Read ↗

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating<i>PITX2</i>from a conserved enhancer locusSemantic proximity Read ↗

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

PITX2 gain-of-function in Rieger syndrome eye model.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 ↗

Characterization and Prevalence of<i>PITX2</i>Microdeletions and Mutations in Axenfeld-Rieger MalformationsSemantic proximity Read ↗

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