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Article

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Journal of human genetics - 1 May 2020

Zazo-Seco Celia, Plaisancié Julie, Bitoun Pierre, Corton Marta, Arteche Ana, Ayuso Carmen, Schneider Adele, Zafeiropoulou Dimitra, Gilissen Christian, Roche Olivier, Frémont Felix, Calvas Patrick, Slavotinek Anne, Ragge Nicola, Chassaing Nicolas

Abstract excerpt

Microphthalmia, anophthalmia, and anterior segment dysgenesis are severe ocular developmental defects. There is a wide genetic heterogeneity leading to these ocular malformations. By using whole genome, exome and targeted sequencing in patients with ocular developmental anomalies, six biallelic pathogenic variants (including five novel variants) were identified in the PXDN gene in four families with...

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PMID: 32015378
DOI: 10.1038/s10038-020-0726-x

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