ArticleMolecular vision2011
Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.
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 18 papers.
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Who cites it
18 citing papers in PubMed, 20 citations in OpenAlex.
- NovelInternational journal of ophthalmology · 2024Article
- Quantitative investigation of the effect of surgically induced hypoparathyroidism on cataract development.Journal of bone and mineral metabolism · 2022Article
- A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation.BMC genomics · 2021Article
- Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in theAnnals of translational medicine · 2021Article
- The relationship between major intrinsic protein genes and cataract.International ophthalmology · 2021Review
- Multicoloured lenticular opacities in a case of cerulean cataract.BMJ case reports · 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
- 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
- Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.PloS one · 2015Article
- A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.PloS one · 2015Article
- 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
- Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.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
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the genetic defect in a large Chinese family with autosomal dominant cerulean cataract.
methodsGenomic DNA and clinical data were collected from the family. Candidate gene sequencing and genome-wide linkage analysis were used to disclose the molecular basis responsible for cerulean cataract in the family.
resultsInitially, sequencing analysis of the three genes (beta-B2-crystallin [CRYBB2], gamma-D-crystallin [CRYGD], and V-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog [MAF]) known to cause cerulean cataract failed to find any mutation. Then, genome-wide linkage analysis mapped the disease to chromosome 12q13-q22 between D12S85 and D12S351, with a maximum lod score of 4.10 at θ=0. Sequence analysis of the major intrinsic protein of lens fiber gene (MIP), a gene known to cause other types of cataract in the linkage interval, detected a novel heterozygous initiation codon mutation, c.2T>C (p.Met1?). This mutation was present in all patients with cerulean cataract but was not present in any of the 13 unaffected family members nor in 96 control individuals.
conclusionsCerulean cataract was found in a large family and is caused by a novel initiation codon mutation in MIP. This study adds a new member in the existing list of genes causing cerulean cataract and expands the mutation spectrum and phenotypic association of MIP mutations.
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21850180PMC3154127W2127633386What OpenQuestion holds
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