ArticleEye (London, England)2018
Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.
Article in Eye (London, England), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- NovelInternational journal of ophthalmology · 2024Article
- A Novel Mutation inOphthalmology science · 2022Article
- Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation.BMC genomics · 2021Article
- The relationship between major intrinsic protein genes and cataract.International ophthalmology · 2021Review
- Genetic modifiers of rodent animal models: the role in cataractogenesis.Experimental animals · 2019Review
- Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.Orphanet journal of rare diseases · 2018Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo detect the underlying pathogenesis of congenital cataract in a four-generation Chinese family.
methodsWhole-exome sequencing (WES) of family members (III:4, IV:4, and IV:6) was performed. Sanger sequencing and bioinformatics analysis were subsequently conducted. Full-length WT-MIP or K228fs-MIP fused to HA markers at the N-terminal was transfected into HeLa cells. Next, quantitative real-time PCR, western blotting and immunofluorescence confocal laser scanning were performed.
resultsThe age of onset for nonsyndromic cataracts in male patients was by 1-year old, earlier than for female patients, who exhibited onset at adulthood. A novel c.682_683delAA (p.K228fs230X) mutation in main intrinsic protein (MIP) cosegregated with the cataract phenotype. The instability index and unfolded states for truncated MIP were predicted to increase by bioinformatics analysis. The mRNA transcription level of K228fs-MIP was reduced compared with that of WT-MIP, and K228fs-MIP protein expression was also lower than that of WT-MIP. Immunofluorescence images showed that WT-MIP principally localized to the plasma membrane, whereas the mutant protein was trapped in the cytoplasm.
conclusionsOur study generated genetic and primary functional evidence for a novel c.682_683delAA mutation in MIP that expands the variant spectrum of MIP and help us better understand the molecular basis of cataract.
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