PUBLICATION
Variant in EZR leads to defects in lens development
- Authors
- Zhou, N., He, M., Zhou, G., Fan, Q., Qi, Y.
- ID
- ZDB-PUB-240403-1
- Date
- 2024
- Source
- Ophthalmic genetics 45(4): 363-371 (Journal)
- Registered Authors
- Keywords
- Congenital cataract, ezrin, mutation, zebrafish
- MeSH Terms
-
- Animals
- Lens, Crystalline*/metabolism
- Lens, Crystalline*/pathology
- Humans
- Cytoskeletal Proteins*/genetics
- Cataract*/genetics
- Cataract*/pathology
- Zebrafish*
- Exome Sequencing
- Pedigree*
- Mutation, Missense*
- Male
- Female
- Genetic Linkage
- PubMed
- 38563525 Full text @ Ophthalmic Genet.
Citation
Zhou, N., He, M., Zhou, G., Fan, Q., Qi, Y. (2024) Variant in EZR leads to defects in lens development. Ophthalmic genetics. 45(4):363-371.
Abstract
Background Congenital cataract is a common cause of blindness. Genetic factors always play important role.
Material and methods This study identified a novel missense variant (c.1412C>T (p.P471L)) in the EZR gene in a four-generation Chinese family with nuclear cataract by linkage analysis and whole-exome sequencing. A knockout study in zebrafish using transcription activator-like effector nucleases was carried out to gain insight into candidate gene function.
Results Conservative and functional prediction suggests that the P-to-L substitution may impair the function of the human ezrin protein. Histology showed developmental delays in the ezrin-mutated zebrafish, manifesting as multilayered lens epithelial cells. Immunohistochemistry revealed abnormal proliferation patterns in mutant fish.
Conclusions The study suggests that ezrin may be involved in the enucleation and differentiation of lens epithelial cells.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping