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Mutation Database
 Mutations of the Harmonin Gene (USH1C)

Recent update from: 18.08.2002

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Sequence




The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.


USH1C Microdeletion exons 1 - 19 122 kb deletion

+BstUI


(1)
USH1C IVS5ins405bp VNTR VNTR expansion
IVS5



(2)
USH1C IVS5-2dela CCGCAGACA - CCGC_GACA
IVS5 +BstUI


(2)
USH1C 216G-A ag GTG GAA - ag GTA GAA
03 -DraIII Homozygous
Splice Site Mutation

(1)
USH1C 238insC CCCCCC - CCCCCCC 0238 03



(2)
(1)

References

  1. Bitner-Glindzicz,M., Lindley,K.J., Rutland,P., Blaydon,D., Smith,V.V., Milla,P.J., Hussain,K., Furth-Lavi,J., Cosgrove,K.E., Shepherd,R.M., Barnes,P.D., O'Brien,R.E., Farndon,P.A., Sowden,J., Liu,X.Z., Scanlan,M.J., Malcolm,S., Dunne,M.J., Aynsley-Green,A., and Glaser,B. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 2000; Nat.Genet. 26: 56-60.
    Link to PubMed
    Goto Top

  2. Verpy,E., Leibovici,M., Zwaenepoel,I., Liu,X.Z., Gal,A., Salem,N., Mansour,A., Blanchard,S., Kobayashi,I., Keats,B.J., Slim,R., and Petit,C. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. 2000; Nat.Genet. 26: 51-55.
    Link to PubMed
    Goto Top

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University of Regensburg
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