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Mutation Database
Mutations of the Protocadherin 15 Gene (PCDH15)

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.


USH1F Arg ? Ter CGA - TGA
02
Homozygous
Abnormal development of stereocilia => hair cells dysfunction


(2)
USH1F IVS27-2a-g ttcag GTC - ttcgg GTC
IVS27
Influences the 11th extracellular Ca++-binding domain
Homozygous


(1)
USH1F Arg 3 ter CGA - TGA 0007 02
Influences the signal sequence
Homozygous


(1)
USH1F 1471delG TGATTTGG - TGA_TTGG 1471 10
Homozygous
Abnormal development of stereocilia => hair cells dysfunction


(2)

References

  1. Ahmed,Z.M., Riazuddin,S., Bernstein,S.L., Ahmed,Z., Khan,S., Griffith,A.J., Morell,R.J., Friedman,T.B., Riazuddin,S., and Wilcox,E.R. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 2001; Am.J.Hum Genet. 69: 25-34.
    Link to PubMed
    Goto Top

  2. Alagramam,K.N., Yuan,H., Kuehn,M.H., Murcia,C.L., Wayne,S., Srisailpathy,C.R., Lowry,R.B., Knaus,R., Van Laer,L., Bernier,F.P., Schwartz,S., Lee,C., Morton,C.C., Mullins,R.F., Ramesh,A., Van Camp,G., Hagemen,G.S., Woychik,R.P., and Smith,R.J. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 2001; Hum.Mol.Genet. 10: 1709-1718.
    Link to PubMed
    Goto Top


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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz