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

Autor: Ana Arteche, Olivier Roche, Marta Corton, Christian Gilissen, Felix Frémont, Patrick Calvas, Adele Schneider, Nicola K. Ragge, Pierre Bitoun, Carmen Ayuso, Dimitra Zafeiropoulou, Julie Plaisancié, Anne Slavotinek, Celia Zazo-Seco, Nicolas Chassaing
Rok vydání: 2020
Předmět:
Zdroj: Journal of Human Genetics, 65, 5, pp. 487-491
Journal of Human Genetics, 65, 487-491
ISSN: 1435-232X
1434-5161
Popis: Contains fulltext : 220455.pdf (Publisher’s version ) (Closed access) 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 microphthalmia and anterior segment dysgenesis. Only 11 different mutations (11 families) have been described in this gene to date. The phenotype of these patients is variable in severity, ranging from cataract and developmental glaucoma to complex microphthalmia. Interestingly, two unrelated patients of our series presented with an ocular phenotype including aniridia and microspherophakia. However, despite various phenotypic presentations and types of mutations, no genotype-phenotype correlation could be made. Thus, this work improves our knowledge of the recessive phenotype associated with biallelic variants in this gene and highlights the importance of screening PXDN in patients with anterior segment dysgenesis with or without microphthalmia.
Databáze: OpenAIRE
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