ArticleMolecular vision2008
A missense mutation in LIM2 causes autosomal recessive congenital cataract.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 41 citations in OpenAlex.
- The Mammalian Ocular Lens in Focus: Development, Anatomy, Physiology, Transparency, Biomechanics, and Age-related Challenges.Journal of visualized experiments : JoVE · 2026Review
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Structure of the lens MP20 mediated adhesive junction.Nature communications · 2025Article
- Structure of the lens MP20 mediated adhesive junction.bioRxiv : the preprint server for biology · 2024Article
- A recurrent variant inOphthalmic genetics · 2022Article
- Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.European journal of human genetics : EJHG · 2021Article
- Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in theAnnals of translational medicine · 2021Article
- Integrated Transcriptomic and Proteomic Analysis Reveals Up-Regulation of Apoptosis and Small Heat Shock Proteins in Lens of Rats Under Low Temperature.Frontiers in physiology · 2021Article
- A novel mutation ofInternational journal of ophthalmology · 2020Article
- Mutations inMolecular vision · 2020Article
- Comparative Transcriptome Profiling of the LoachesFrontiers in genetics · 2019Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Article
- Pediatric cataract: challenges and future directions.Clinical ophthalmology (Auckland, N.Z.) · 2015Review
- Comparative transcriptome analysis of epithelial and fiber cells in newborn mouse lenses with RNA sequencing.Molecular vision · 2014Article
- Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.BMC medical genetics · 2013Article
- Claudins and the modulation of tight junction permeability.Physiological reviews · 2013Review
- Mutational screening of Indian families with hereditary congenital cataract.Molecular vision · 2013Article
- Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.Molecular vision · 2013Article
- Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.BMC ophthalmology · 2011Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify mutations in the LIM2 gene in families with hereditary congenital or juvenile-onset cataract.
methodsForty families (total of 100 affected and 84 unaffected individuals) were recruited for the study. Probands were screened for pathogenic alterations in 10 different candidate genes including the lens intrinsic membrane protein-2 (LIM2) gene. Exons and flanking regions were screened by polymerase chain reaction (PCR) amplification, single-strand conformation polymorphism, and sequencing. Sequence changes were evaluated in 75 unrelated normal controls.
resultsA missense mutation, Gly154Glu, was found in LIM2 in one family with four individuals diagnosed with autosomal recessive cataract from two generations. An evaluation of seven individuals (four affected and three unaffected) showed that the mutation was homozygous in the affected members and heterozygous in unaffected members tested. It was absent in 75 unrelated ethnically matched normal controls. All affected individuals had a severe phenotype of congenital cataracts and visual impairment.
conclusionsThe Gly154Glu mutation involves a non-conservative change that presumably results in loss of function of the MP19 protein. This study shows the involvement of LIM2 in human congenital cataract.
Indexed as
Identifiers
18596884PMC2442473W1481053110What 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.