A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome

Molecular Genetics and Metabolism

Volumn 79, Issue 2, 2003, Pages 146-148

  Allende, Luis M ^a   Moreno, Angel ^a   De Unamuno, Pablo ^b  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

Author keywords

Cathepsin C; Mutation; Papillon Lef vre syndrome

Indexed keywords

AMINO ACID; DIPEPTIDYL PEPTIDASE I;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; EXON; FAMILY STUDY; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOTE; HUMAN; KERATOSIS PALMOPLANTARIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON;

BACTERIA (MICROORGANISMS);

EID: 0038617350     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00070-2     Document Type: Article

References (10)

1. Papillon M.M., Lefèvre P. Deux cas de keratodermie palmaire et plantaire symetrique familiale (maladie de Meleda) chez le frere et la soeur. Coexistence dans les deux cas d'alterations dentaires graves. Bull. Soc. Fr. Dermatol. Syphilis. 31:1924;82-87.
2. Hart T.C., Hart P.S., Bowden D.W., Michalec M.D., Callison S.A., Walker S.J., Zhang Y., Firatli E. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. J. Med. Genet. 36:1999;881-887.
3. Toomes C., James J., Wood A.J., Wu C.L., McCormick D., Lench N., Hewitt C., Moynihan L., Roberts E., Woods C.G., Markham A., Wong M., Widmer R., Ghaffar K.A., Pemberton M., Hussein I.R., Temtamy S.A., Davies R., Read A.P., Sloan P., Dixon M.J., Thakker N.S. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat. Genet. 23:1999;421-424.
4. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, Baltimore MD, MIM Number (245000); world wide web URL http://www.ncbi.nlm.nih.gov/omim.
5. Lefèvre C., Blanchet-Bardon C., Jobardb F., Bouadjar B., Stalder J.F., Cure S., Hoffmann A., Prud'Homme J.F., Fischer J. Novel point mutations, deletions, and polymorphism in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. J. Invest. Dermatol. 117:2001;1657-1661.
6. Bravo-Piris J., Villaron L.G., Martinez C., Garcia-Perez A. Papillon-Lefèvre syndrome: report of two familial cases. Dermatologica. 152:1976;168-176.
7. Allende L.M., García-Pérez M.A., Moreno A., Corell A., Carasol M., Martinez-Canut P., Arnaiz-Villena A. Cathepsin C gene: first compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation. Hum. Mutat. 17:2001;152-153.
8. Allende L.M., Hernández M., Corell A., García-Pérez M.A., Varela P., Moreno A., Caragol I., García-Martín F., Guillén-Perales J., Olive T., Español T., Arnaiz-Villena A. A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans. Immunology. 99:2000;440-450.
9. Zhang Y., Hart P.S., Moretti A.J., Bouwsma O.J., Fisher E.M., Dudlicek L., Pettenati M.J., Hart T.C. Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three north american families with Papillon-Lefèvre syndrome. Hum. Mutat. 20:2002;75.
10. Van Steensel M.A., Van Geel M., Steijlen P.M. New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. Br. J. Dermatol. 147:2002;575-581.