ArticleAmerican journal of human genetics2002
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
63 citing papers in PubMed, 120 citations in OpenAlex.
- Point mutations and complex variants impact gene expression and addiction-related behaviors in Heterogeneous Stock rats.bioRxiv : the preprint server for biology · 2026Article
- Whole-exome sequencing for identification of genetic changes in adult-onset posterior polar cataract.Indian journal of ophthalmology · 2026Article
- Human Crystallin Variation and Cataract.Investigative ophthalmology & visual science · 2026Review
- Identification and functional characterization of a novel CRYBB1 deletion mutation causing autosomal dominant congenital cataract in a Chinese family.BMC ophthalmology · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea.Genome biology and evolution · 2024Article
- The importance of the fourth Greek key motif of human γD-crystallin in maintaining lens transparency-the tale told by the tail.Molecular vision · 2024Article
- The Long Non-Coding RNACells · 2022Review
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- Intrauterine Cataract Diagnosis and Follow-upTurkish journal of ophthalmology · 2020Article
- MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract.Human genetics · 2020Article
- Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.Human genetics · 2019Review
- Bidirectional Analysis of Cryba4-Crybb1 Nascent Transcription and Nuclear Accumulation of Crybb3 mRNAs in Lens Fibers.Investigative ophthalmology & visual science · 2019Article
- Novel mutations inInternational journal of ophthalmology · 2018Article
- Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.Scientific reports · 2017Article
- Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.European journal of human genetics : EJHG · 2017Article
- A novel truncation mutation inMolecular vision · 2017Article
- Glaucoma related Proteomic Alterations in Human Retina Samples.Scientific reports · 2016Article
- Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.PLoS genetics · 2016Article
- SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.European journal of human genetics : EJHG · 2015Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Autosomal dominant cataract is a clinically and genetically heterogeneous lens disorder that usually presents as a sight-threatening trait in childhood. Here we have mapped dominant pulverulent cataract to the beta-crystallin gene cluster on chromosome 22q11.2. Suggestive evidence of linkage was detected at markers D22S1167 (LOD score [Z] 2.09 at recombination fraction [theta] 0) and D22S1154 (Z=1.39 at theta=0), which closely flank the genes for betaB1-crystallin (CRYBB1) and betaA4-crystallin (CRYBA4). Sequencing failed to detect any nucleotide changes in CRYBA4; however, a G-->T transversion in exon 6 of CRYBB1 was found to cosegregate with cataract in the family. This single-nucleotide change was predicted to introduce a translation stop codon at glycine 220 (G220X). Expression of recombinant human betaB1-crystallin in bacteria showed that the truncated G220X mutant was significantly less soluble than wild type. This study has identified the first CRYBB1 mutation associated with autosomal dominant cataract in humans.
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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.