ArticleMolecular vision2010
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 31 citations in OpenAlex.
- 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
- Degradation of connexin 50 protein causes waterclefts in human lens.Open medicine (Warsaw, Poland) · 2020Article
- BFSP1 C-terminal domains released by post-translational processing events can alter significantly the calcium regulation of AQP0 water permeability.Experimental eye research · 2019Article
- 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
- MiR-2964a-5p binding site SNP regulatesOncotarget · 2017Article
- 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
- Aquaporins in the eye: expression, function, and roles in ocular disease.Biochimica et biophysica acta · 2014Review
- Aquaporin-0 targets interlocking domains to control the integrity and transparency of the eye lens.Investigative ophthalmology & visual science · 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
- Article
- The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.PloS one · 2012Article
- A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.Molecular vision · 2012Article
- Unique and analogous functions of aquaporin 0 for fiber cell architecture and ocular lens transparency.Biochimica et biophysica acta · 2011Article
- A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo detect the underlying genetic defect in a Chinese family affected with bilateral congenital cataracts.
methodsA detailed family history and clinical data were recorded. Mutation screening was performed in the nuclear cataract-related gene by bidirectional sequencing of the amplified products. The mutation was verified by denaturing high-performance liquid chromatography (DHPLC).
resultsTwo cataract phenotypes were observed within this family: one eye exhibited Y-suture and nuclear pulverulent opacification of the lens, while the others exhibited complete opacification in the fetal nuclear region. Sequencing of the candidate genes detected a heterozygous c.319G>A change in the coding region of the major intrinsic protein (MIP), resulting in the substitution of a highly conserved Valine by Isoleucine (p.V107I).The mutation was confirmed by DHPLC.
conclusionsThis study has identified a novel MIP mutation, p.V107I in a Chinese family with congenital cataracts. To the best of our knowledge, this is the first reported case of cataracts caused by a mutation in the second extracellular loop domain of MIP.
Indexed as
Identifiers
20361015PMC2846850W279475414What 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.