ArticlePloS one2015
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 39 citations in OpenAlex.
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- JAM-C Is Important for Lens Epithelial Cell Proliferation and Lens Fiber Maturation in Murine Lens Development.Investigative ophthalmology & visual science · 2023Article
- Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.Frontiers in neurology · 2023Article
- Trends in HSPB5 research: a 36-year bibliometric analysis.Cell stress & chaperones · 2021Article
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- Crystalline gene mutations in Turkish children with congenital cataracts.International ophthalmology · 2021Article
- 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
- Mutations inMolecular vision · 2020Article
- Novel mutations inMolecular vision · 2020Article
- Biology of Inherited Cataracts and Opportunities for Treatment.Annual review of vision science · 2019Review
- Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.Human genetics · 2019Review
- Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.PloS one · 2019Article
- Progression of the role of CRYAB in signaling pathways and cancers.OncoTargets and therapy · 2019Review
- Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts.Experimental and therapeutic medicine · 2018Article
- Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.International journal of ophthalmology · 2018Review
- A novel dominant D109ABBA clinical · 2017Article
- Article
- Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.Investigative ophthalmology & visual science · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 8 institutions in 3 countries.
Funding
Abstract
purposeThis study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.
methodsAffected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the removal of the cataractous lens. Blood samples were obtained, and genomic DNA was extracted from white blood cells. A genome-wide scan was completed with short tandem repeat (STR) markers, and the logarithm of odds (LOD) scores were calculated. Protein coding exons of CRYAB were sequenced, bi-directionally. Evolutionary conservation was investigated by aligning CRYAB orthologues, and the expression of Cryab in embryonic and postnatal mice lens was investigated with TaqMan probe.
resultsThe clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis suggested a potential region on chromosome 11q23 harboring CRYAB. DNA sequencing identified a missense variation: c.34C>T (p.R12C) in CRYAB that segregated with the disease phenotype in the family. Subsequent interrogation of our entire cohort of familial cases identified a second familial case localized to chromosome 11q23 harboring a c.31C>T (p.R11C) mutation. In silico analyses suggested that the mutations identified in familial cases, p.R11C and p.R12C will not be tolerated by the three-dimensional structure of CRYAB. Real-time PCR analysis identified the expression of Cryab in mouse lens as early as embryonic day 15 (E15) that increased significantly until postnatal day 6 (P6) with steady level of expression thereafter.
conclusionHere, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.
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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.