Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Papillon-Lefevre Syndrome

OMIM:245000
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolCTSC
Reference transcriptNM_148170.3
DNA Changec.72C>A
A.A. Changep.Cys24X
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceLefevre C, Blanchet-Bardon C, Jobard F, Bouadjar B, Stalder JF, Cure S, Hoffmann A, Prud Homme JF, Fischer J.Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome.
J Invest Dermatol. 2001 Dec;117(6):1657-61.