ArticleBMC medical genetics2014
A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 33 citations in OpenAlex.
- In Silico Modelling of the AQP0 T138R Mutation and its' links to Potential Mechanisms of Cataractogenesis.Research square · 2025Article
- Gene and phenome-based analysis of the shared genetic architecture of eye diseases.American journal of human genetics · 2025Article
- Altered Cell Clusters and Upregulated Aqp1 in Connexin 50 Knockout Lens Epithelium.Investigative ophthalmology & visual science · 2024Article
- The Synergistic Effects of Polyol Pathway-Induced Oxidative and Osmotic Stress in the Aetiology of Diabetic Cataracts.International journal of molecular sciences · 2024Review
- Regulation of water flow in the ocular lens: new roles for aquaporins.The Journal of physiology · 2024Review
- NovelInternational journal of ophthalmology · 2024Article
- Lens Aquaporins in Health and Disease: Location is Everything!Frontiers in physiology · 2022Review
- 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
- 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
- Mutation profiles of congenital cataract genes in 21 northern Chinese families.Molecular vision · 2018Article
- Novel mutations inInternational journal of ophthalmology · 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
- Calmodulin Gates Aquaporin 0 Permeability through a Positively Charged Cytoplasmic Loop.The Journal of biological chemistry · 2017Article
- Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.Molecular vision · 2016Article
- MALDI Imaging Mass Spectrometry Spatially Maps Age-Related Deamidation and Truncation of Human Lens Aquaporin-0.Investigative ophthalmology & visual science · 2015Article
- Nonsense suppression therapies in ocular genetic diseases.Cellular and molecular life sciences : CMLS · 2015Review
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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
backgroundThe major intrinsic protein gene (MIP), also known as MIP26 or AQP0, is a member of the water-transporting aquaporin family, which plays a critical role in the maintenance of lifelong lens transparency. To date, several mutations in MIP (OMIM 154050) have been linked to hereditary cataracts in humans. However, more pathogenic mutations remain to be identified. In this study, we describe a four-generation Chinese family with a nonsense mutation in MIP associated with an autosomal dominant congenital cataract (ADCC), thus expanding the mutational spectrum of this gene.
methodsA large four-generation Chinese family affected with typical Y-suture cataracts combined with punctuate cortical opacities and 100 ethnically matched controls were recruited. Genomic DNA was extracted from peripheral blood leukocytes to analyze congenital cataract-related candidate genes. Effects of the sequence change on the structure and function of proteins were predicted by bioinformatics analysis.
resultsDirect sequencing of MIP in all affected members revealed a heterozygous nucleotide exchange c.337C>T predicting an arginine to a stop codon exchange (p.R113X). The substitution co-segregated well in all the affected individuals in the family and was not found in unaffected members or in the 100 unrelated healthy controls. Bioinformatics analysis predicted that the mutation affects the secondary structure and function of the MIP protein.
conclusionsWe identified a novel mutation of MIP (p.R113X) in a Chinese cataract family. This is the first nonsense mutation of MIP identified thus far. This novel mutation is also the first disease-causing mutation located in the loop C domain of MIP. The results add to the list of mutations of the MIP linked to cataracts.
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