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Article

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

American journal of human genetics - 1 Dec 2016

Cheong Sek-Shir, Hentschel Lisa, Davidson Alice E, Gerrelli Dianne, Davie Rebecca, Rizzo Roberta, Pontikos Nikolas, Plagnol Vincent, Moore Anthony T, Sowden Jane C, Michaelides Michel, Snead Martin, Tuft Stephen J, Hardcastle Alison J

Abstract excerpt

Anterior segment dysgeneses (ASDs) comprise a spectrum of developmental disorders affecting the anterior segment of the eye. Here, we describe three unrelated families affected by a previously unclassified form of ASD. Shared ocular manifestations include bilateral iris hypoplasia, ectopia lentis, corectopia, ectropion uveae, and cataracts. Whole-exome sequencing and targeted Sanger sequencing identified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27839872
DOI: 10.1016/j.ajhg.2016.09.022
PMCID: PMC5142107

Genes

CPAMD8
PZP

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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