Papillon-Lefevre Syndrome
OMIM:245000Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | CTSC |
|---|---|
| Reference transcript | NM_148170.3 |
| DNA Change | c.72C>A |
| A.A. Change | p.Cys24X |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Lefevre 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. |