Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome

Journal of Periodontology

Volumn 77, Issue 2, 2006, Pages 233-237

  Wani, Aijaz Ahmad ^a   Devkar, Nihal ^b   Patole, Milind S ^a   Shouche, Yogesh S ^a  

^a NATIONAL CENTRE FOR CELL SCIENCE   (India)

^b Jodhpur Dental College General Hospital   (India)

Author keywords

Cathepsin C; Hyperkeratosis; Mutation; Papillon Lef vre syndrome

Indexed keywords

DIPEPTIDYL PEPTIDASE I; GENOMIC DNA; ADENINE; CYTOSINE; DNA; GUANINE; HISTIDINE; THYMINE;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DNA ISOLATION; DNA SEQUENCE; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME CONFORMATION; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HETERODUPLEX ANALYSIS; HETEROZYGOSITY; HOMOZYGOTE; HUMAN; INDIAN; INTRON; KERATOSIS PALMOPLANTARIS; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PERIODONTITIS; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; STOP CODON; ENZYMOLOGY; GENETICS; HETEROZYGOTE; MUTATION; PEDIGREE; PRESCHOOL CHILD;

ADENINE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CONSERVED SEQUENCE; CYTOSINE; DIPEPTIDYL PEPTIDASE I; DNA; EXONS; FEMALE; GENE DELETION; GUANINE; HETERODUPLEX ANALYSIS; HETEROZYGOTE; HISTIDINE; HOMOZYGOTE; HUMANS; INTRONS; MALE; MUTATION; PAPILLON-LEFEVRE DISEASE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; THYMINE;

EID: 33646166417     PISSN: 00223492     EISSN: None     Source Type: Journal    
DOI: 10.1902/jop.2006.050124     Document Type: Article

References (15)

1. Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmo-plantar hyperkeratosis and premature periodontal destruction of the teeth: A clinical and genetic analysis of the Papillon Lefèvre syndrome. J Pediatr 1964;65:895-908.
2. Cury VF, Costa JE, Gomez RS, Boson WL, Loures CG, Marco LID. A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome. J Periodontol 2002;73: 307-312.
3. Haneke E. The Papillon-Lefèvre syndrome: Keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. Hum Genet 1979;51:1-35.
4. Hart TC, Hart PS, Bowden DW, et al. Mutations of the cathepsin C gene are responsible for Papillon Lefèvre syndrome. J Med Genet 1999;36:881-887.
5. Toomes C, James J, Wood AJ. Loss of function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999; 23:421-424.
6. Kshirsagar SG, Patole MS, Shouche YS. Characterization of insect cell lines: Heteroduplex analysis employing a mitochondrial 16S ribosomal RNA gene fragment. Anal Biochem 1997;253:65-69.
7. de Haar SF, Jansen DC, Schoenmaker T, De Vree H, Everts V, Beertsen W. Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs. Hum Mutat 2004;23:524-529.
8. Online Mendelian Inheritance in Man (OMIM). MIM #245000. Baltimore, MD: Johns Hopkins University. Available at: http://www.ncbi.nlm.nih.gov/ omim. Accessed March 28, 2005.
9. Selvaraju V, Markandaya M, Prasad PV, et al. Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lèfevre syndrome. BMC Med Genet 2003;4:5.
10. Noack B, Gorgens H, Hoffmann T, et al. Novel mutations in the cathepsin C gene in patients with prepubertal aggressive periodontitis and Papillon-Lèfevre syndrome. J Dent Res 2004;83:368-370.
11. Hewitt C, McCormick D, Linden G, et al. The role of cathepsin C in Papillon-Lèfevre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hum Mutat 2004;23:222-228.
12. Hart TC, Hart PS, Michalec MD, et al. Haim-Munk syndrome and Papillon Lèfevre syndrome are allelic mutations in cathepsin C. J Med Genet 2000;37:88-94.
13. Hart TC, Hart PS, Michalec MD, et al. Localization of a gene for prepubertal periodontitis to chromosome 11q14 and identification of cathepsin C gene mutation. J Med Genet 2000;37:95-101.
14. Hart PS, Zhang Y, Firatli E, et al. Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients. J Med Genet 2000;37: 927-932.
15. Allende LM, Garcia-Perez MA, Moreno A, et al. Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation. Hum Mutat 2001;17:152-153.