ArticleMolecular vision2011
A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 35 citations in OpenAlex.
- A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.BMC ophthalmology · 2025Article
- NovelInternational journal of ophthalmology · 2024Article
- 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
- Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family.Bioscience reports · 2020Article
- Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.Eye (London, England) · 2018Article
- A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.Experimental animals · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.Scientific reports · 2017Article
- A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.PloS one · 2015Article
- Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.PloS one · 2015Article
- A novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.G3 (Bethesda, Md.) · 2014Article
- Aquaporin-0 targets interlocking domains to control the integrity and transparency of the eye lens.Investigative ophthalmology & visual science · 2014Article
- A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.BMC medical genetics · 2014Article
- A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.PloS one · 2014Article
- Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion.Experimental eye research · 2013Article
- A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family.Molecular vision · 2013Article
- The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.PloS one · 2012Article
- Article
- A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.Molecular vision · 2012Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract.
methodsA four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. Effects of amino acid changes on the structure and function of protein were predicted by bioinformatics analysis.
resultsAll affected individuals in this family showed nuclear cataracts. Sequencing of the candidate genes revealed a heterozygous c.559C>T change in the coding region of the major intrinsic protein (MIP), which caused a substitution of highly conserved arginine by cysteine at codon 187 (p.R187C). This mutation co-segregated with all affected individuals and was not observed in unaffected family members or 110 ethnically matched controls. Bioinformatics analysis showed that the mutation was predicted to affect the function and secondary structure of MIP protein.
conclusionsThis study identified a novel disease-causing mutation p.R187C in MIP in a Chinese cataract family, expanding the mutation spectrum of MIP causing congenital cataract.
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21245956PMC3021572W176831754What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.