Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
May 2020
May 2020
Historique:
received:
24
07
2019
accepted:
11
01
2020
revised:
08
01
2020
pubmed:
6
2
2020
medline:
18
12
2020
entrez:
5
2
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32015378
doi: 10.1038/s10038-020-0726-x
pii: 10.1038/s10038-020-0726-x
doi:
Substances chimiques
PXDN protein, human
EC 1.11.1.-
Peroxidases
EC 1.11.1.-
Types de publication
Case Reports
Clinical Trial
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
487-491Références
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