6533b833fe1ef96bd129c42f
RESEARCH PRODUCT
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
José M. CuevasCarmen AyusoCarmen EspinósJm MillánBlanca Garcia-sandovalM.j. TrujilloC. NájeraFrancisco SánchezMagdalena Beneytosubject
MaleUsher syndromeNonsense mutationDNA Mutational AnalysisGenes RecessiveBiologyDeafnessMyosinsPolymerase Chain ReactionExonotorhinolaryngologic diseasesmedicineHumansCysteineMolecular BiologyGenePolymorphism Single-Stranded ConformationalGeneticsMyosin VIIaChromosomeDyneinsCell BiologyDNAExonsSyndromeMiddle Agedmedicine.diseasePedigreeMyosin VIIaMutation (genetic algorithm)MutationCodon TerminatorFemaleNovel mutationRetinitis Pigmentosadescription
A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1998-12-09 | Molecular and cellular probes |