RGD Reference Report - Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene. - 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   new 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

Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

Authors: Du, H  Grob, S R  Zhao, L  Lee, J  El-Sahn, M  Hughes, G  Luo, J  Schaf, K  Duan, Y  Quach, J  Wei, X  Shaw, P  Granet, D  Zhang, K 
Citation: Du H, etal., Eye (Lond). 2012 Aug;26(8):1039-43. doi: 10.1038/eye.2012.80. Epub 2012 Jun 1.
RGD ID: 13208512
Pubmed: PMID:22653516   (View Abstract at PubMed)
PMCID: PMC3420053   (View Article at PubMed Central)
DOI: DOI:10.1038/eye.2012.80   (Journal Full-text)


BACKGROUND/AIMS: To determine the genetic basis of myotonia congenita (MC) and strabismus in a large Caucasian family.
METHODS: Seven patients making up four generations of a family with MC and strabismus were recruited. All patients had at least one standard ophthalmic examination, including best-corrected visual acuity, refraction, and ocular motility measurements. CLCN1 and SCN4A genes were sequenced and analysed for mutations.
RESULTS: Five out of the seven family members were diagnosed with MC by clinical history and electromyography. Ophthalmic history and exam revealed eyelid myotonia and strabismus. All patients with MC were diagnosed with strabismus between the ages of 3 and 6 and required surgical restoration of ocular alignment. Sequencing results revealed a c. 1333G>A; p. Val445Met mutation in the SCN4A gene.
CONCLUSION: There are few reports describing eyelid myotonia and strabismus in patients diagnosed with MC. We found significant ocular involvement in a family with a mutation in SCN4A. Future studies may confirm that MC with significant ocular involvement can be used to direct genetic analysis.

Objects referenced in this article
Gene Bsn bassoon (presynaptic cytomatrix protein) Rattus norvegicus
Gene Dynll1 dynein light chain LC8-type 1 Rattus norvegicus
Gene Dynll2 dynein light chain LC8-type 2 Rattus norvegicus

Additional Information