A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome

Journal of the European Academy of Dermatology and Venereology

Volumn 24, Issue 8, 2010, Pages 967-969

  Kurban, M ^a   Cheng, T ^a   Wajid, M ^a   Kiuru, M ^a   Shimomura, Y ^a   Christiano, A M ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

cathepsin C; gingivitis; palmoplantar keratoderma; Papillon Lefevre syndrome

Indexed keywords

DIPEPTIDYL PEPTIDASE I; GENOMIC DNA; SERINE PROTEINASE;

ARTICLE; CELL DIFFERENTIATION; DESQUAMATION; EXON; FAMILY; GENE MUTATION; HUMAN; IMMUNE SYSTEM; INTRON; NUCLEOTIDE SEQUENCE; PAKISTAN; PAPILLON LEFEVRE SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; CATHEPSIN C; EXONS; HUMANS; INTRONS; MALE; PAKISTAN; PAPILLON-LEFEVRE DISEASE; SEQUENCE DELETION;

EID: 77954399086     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2010.03575.x     Document Type: Article

References (12)

1. Canger EM, Celenk P, Devrim I, Yenisey M, Gunhan O. Intraoral findings of Papillon-Lefevre syndrome. J Dent Child 2008 75 : 99 103.
2. Toomes C, James J, Wood AJ et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999 23 : 421 424.
3. Fukai K, Oh J, Karim MA et al. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet 1996 59 : 620 624.
4. Karim MA, Nagle DL, Kandil HH et al. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 1997 6 : 1087 1089.
5. Lundgren T, Renvert S. Periodontal treatment of patients with Papillon-Lefèvre syndrome: a 3-year follow-up. J Clin Periodontol 2004 31 : 933 938.
6. Fardal O, Drangsholt E, Olsen I. Palmar plantar keratosis and unusual periodontal findings: observations from a family of 4 members. J Clin Periodontol 1998 25 : 181 184.
7. Pham CT, Ivanovich JL, Raptis SZ, Zehnbauer B, Ley TJ. Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. J Immunol 2004 173 : 7277 7281.
8. Nakajima K, Nakano H, Takiyoshi N et al. Papillon-Lefèvre syndrome and malignant melanoma: a high incidence of melanoma development in Japanese palmoplantar keratoderma patients. Dermatology 2008 217 : 58 62.
9. Lefèvre C, Blanchet-Bardon C, Jobard F et al. Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome. J Invest Dermatol 2001 117 : 1657 1661.
10. Selvaraju V, Markandaya M, Prasad PV et al. Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome. BMC Med Genet 2003 4 : 5.
11. Noack B, Görgens H, Hempel U et al. Cathepsin C gene variants in aggressive periodontitis. J Dent Res 2008 87 : 958 963.
12. Pilger U, Hennies HC, Truschnegg A, Aberer E. Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene. J Am Acad Dermatol 2003 5 (Suppl S240 S243.