ArticlePloS one2016
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 26 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
- Transcriptomic Profiling of Zebrafish Mutant forInternational journal of molecular sciences · 2025Article
- Structure of the lens MP20 mediated adhesive junction.Nature communications · 2025Article
- Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea.Genome biology and evolution · 2024Article
- Structure of the lens MP20 mediated adhesive junction.bioRxiv : the preprint server for biology · 2024Article
- Review
- A recurrent variant inOphthalmic genetics · 2022Article
- Biallelic Variants inInternational journal of molecular sciences · 2021Article
- The aging mouse lens transcriptome.Experimental eye research · 2021Article
- Article
- Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in theAnnals of translational medicine · 2021Article
- Fibronectin has multifunctional roles in posterior capsular opacification (PCO).Matrix biology : journal of the International Society for Matrix Biology · 2020Article
- A novel mutation ofInternational journal of ophthalmology · 2020Article
- Proteome-transcriptome analysis and proteome remodeling in mouse lens epithelium and fibers.Experimental eye research · 2019Article
- Fine mapping of chromosome 9 locus associated with congenital cataract.International ophthalmology · 2018Article
- Article
- Article
- Congenital cataract: a guide to genetic and clinical management.Therapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 3 countries.
Funding
Abstract
purposeTo identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family.
methodsAll family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family. The symptomatic history of the individuals exhibiting cataracts was confirmed by slit-lamp biomicroscopy. A genome-wide linkage analysis was performed to localize the disease interval. The candidate gene, LIM2 (lens intrinsic membrane protein 2), was sequenced bi-directionally to identify the disease-causing mutation. The physical changes caused by the mutation were analyzed in silico through homology modeling, mutation and bioinformatic algorithms, and evolutionary conservation databases. The physiological importance of LIM2 to ocular development was assessed in vivo by real-time expression analysis of Lim2 in a mouse model.
resultsOphthalmic examination confirmed the diagnosis of nuclear cataracts in the affected members of the family; the inheritance pattern and cataract development in early infancy indicated arCC. Genome-wide linkage analysis localized the critical interval to chromosome 19q with a two-point logarithm of odds (LOD) score of 3.25. Bidirectional sequencing identified a novel missense mutation, c.233G>A (p.G78D) in LIM2. This mutation segregated with the disease phenotype and was absent in 192 ethnically matched control chromosomes. In silico analysis predicted lower hydropathicity and hydrophobicity but higher polarity of the mutant LIM2-encoded protein (MP19) compared to the wild-type. Moreover, these analyses predicted that the mutation would disrupt the secondary structure of a transmembrane domain of MP19. The expression of Lim2, which was detected in the mouse lens as early as embryonic day 15 (E15) increased after birth to a level that was sustained through the postnatal time points.
conclusionA novel missense mutation in LIM2 is responsible for autosomal recessive congenital cataracts.
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