Repeat Sequences: Disease Associations

VariableAutosomal RecessiveMitochondrialX-LinkedAutosomal DominantIon Channels / MembraneOMIM 143100

mother/dnarep.htm#Repeat Sequences: Disease Associations

Overview

From WUSTL Neuromuscular

General Features Arise from: Normally existing polymorphic repeats Expansion sizes Unstable May change size: As mosaic in individual, or Across generations Longer repeats: Often associated with more severe, earlier-onset disease Clinical anticipation (Earlier-onset, more severe disease in successive generations): Common Phenotype: May be variable & reflect differences in repeat size Mutation effects Toxic gain of function Mutant protein: AUG initiation (Amino acid, Ribosome, tRNA) CAG/polyQ diseases: SBMA Spinocerebellar ataxias types 1, 2, 3, 6, 7, 17 Oculopharyngeal muscular dystrophy Huntin

OMIM Entries

OMIM #143100 OMIM #606438 OMIM #309550 OMIM #603363 OMIM #309548 OMIM #605268 OMIM #313700 OMIM #603279 OMIM #602272 OMIM #601074 OMIM #209880 OMIM #603851 OMIM #603073 OMIM #300382 OMIM #313430 OMIM #119600 OMIM #600211 OMIM #186000 OMIM #142989 OMIM #142959 OMIM #605597

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.