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Article

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

European journal of human genetics : EJHG - 1 Mar 2015

Choi Alex, Lao Richard, Ling-Fung Tang Paul, Wan Eunice, Mayer Wasima, Bardakjian Tanya, Shaw Gary M, Kwok Pui-Yan, Schneider Adele, Slavotinek Anne

Abstract excerpt

We used exome sequencing to study a non-consanguineous family with two children who had anterior segment dysgenesis, sclerocornea, microphthalmia, hypotonia and developmental delays. Sanger sequencing verified two Peroxidasin (PXDN) mutations in both sibs--a maternally inherited, nonsense mutation, c.1021C>T predicting p.(Arg341*), and a paternally inherited, 23-basepair deletion causing a frameshift and...

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Source

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Identifiers

PMID: 24939590
DOI: 10.1038/ejhg.2014.119
PMCID: PMC4326713

Genes

PXDN

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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