ArticleInternational journal of ophthalmology2024
Abnormal function of
Article in International journal of ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
11 authors.
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Abstract
aimTo identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.
methodsA four-generation Chinese family affected with autosomal dominant congenital cataract was recruited. Nineteen individuals took part in this study including 5 affected and 14 unaffected individuals. Sanger sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant discovery. The pathogenicity of the variant was evaluated by the guidelines of American College of Medical Genetics and InterVar software. Confocal microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2 (EPHA2). Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane proteins. The mRNA and protein expression were analyzed by reverse transcription-polymerase chain reaction (qRT-PCR) and Western blotting assay, respectively. The cell migration was analyzed by wound healing assay. Zebrafish model was generated by ectopic expression of human
resultsA novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif (SAM) domain of
conclusionNovel pathogenic c.2870G>C variant of
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