RGD Reference Report - Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYbetaA3/A1. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYbetaA3/A1.

Authors: Yu, Y  Li, J  Xu, J  Wang, Q  Yu, Y  Yao, K 
Citation: Yu Y, etal., Mol Vis. 2012;18:2213-20. Epub 2012 Aug 8.
RGD ID: 10059634
Pubmed: PMID:22919269   (View Abstract at PubMed)
PMCID: PMC3425576   (View Article at PubMed Central)

PURPOSE: To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital polymorphic cataracts. METHODS: Family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Genomic DNA samples were extracted from peripheral blood of family members. Candidate genes were amplified using polymerase chain reaction (PCR) and screened for mutations on both strands using bidirectional sequencing. RESULTS: Affected individuals exhibited variable opacities in the embryonic nucleus, sutures, and peripheral cortical opacities. The phenotype for this family was identified as polymorphic. Direct sequencing revealed a splice site mutation (c.215+1G>A) at the first base of intron 3 of the crystallin beta A3/A1 (CRYBA3/A1) gene. This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members or in 100 unrelated controls. CONCLUSIONS: Our results identified a recurrent c.215+1G>A mutation in CRYBA3/A1 in a polymorphic congenital cataract family, summarized the variable phenotypes among the patients, which expanded the phenotypic spectrum of congenital cataract in a different ethnic background, and suggested a mechanism that influences cataractogenesis.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CRYBA1Humancataract  IAGP DNA:splice-site mutation:intron:c.215+1G>A (human)RGD 
Cryba1Ratcataract  ISOCRYBA1 (Homo sapiens)DNA:splice-site mutation:intron:c.215+1G>A (human)RGD 
Cryba1Mousecataract  ISOCRYBA1 (Homo sapiens)DNA:splice-site mutation:intron:c.215+1G>A (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cryba1  (crystallin, beta A1)

Genes (Mus musculus)
Cryba1  (crystallin, beta A1)

Genes (Homo sapiens)
CRYBA1  (crystallin beta A1)


Additional Information