Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome

Journal of Medical Genetics

Volumn 36, Issue 12, 1999, Pages 881-887

  Hart, Thomas C ^a,b   Hart, P Suzanne ^a   Bowden, Donald W ^a   Michalec, Michael D ^a   Callison, Scott A ^a   Walker, Steve J ^a   Zhang, Yingze ^b   Firatli, Erhan ^c  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Cathepsin C; Palmoplantar hyperkeratosis; Papillon lefevre syndrome; Periodontitis

Indexed keywords

DIPEPTIDYL PEPTIDASE I; DNA;

ARTICLE; CHROMOSOME 11Q; CLINICAL ARTICLE; CONSANGUINITY; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; KERATOSIS PALMOPLANTARIS; MALE; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PERIODONTITIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; TURKEY (REPUBLIC);

ADULT; CONSANGUINITY; DIPEPTIDYL PEPTIDASE I; FEMALE; GENETIC MARKERS; HUMANS; MALE; MUTATION; PAPILLON-LEFEVRE DISEASE; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0033455594     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Papillon MM, 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 1924;31:82-7.
2. Stevens HP, Kelsell DP, Bryant SP, et al. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol 1996;132:640-51.
3. Online Mendelian Inheritance in Man, OMIM™. Johns Hopkins University, Baltimore, MD. MIM number: {MIM 2450001}: {8/20/98}. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
4. Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. J Pediatr 1964;65:895-908.
5. 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.
6. Laass MW, Hennies HC, Preis S, et al. Localization of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. Hum Genet 1997;101:376-82.
7. Fischer J, Blanchet-Bardon C, Prud'homme JF, et al. Mapping of Papillon-Lefèvre syndrome to the chromosome 11q14 region. Eur J Hum Genet 1997;5:156-60.
8. Hart TC, Bowden DW, Ghaffar KA, et al. Sublocalization of the Papillon-Lefèvre syndrome locus on 11q14-q21. Am J Med Genet 1998;79:134-9.
9. Hart TC, Bowden DW, Hart PS, et al. An integrated physical and genetic map of the PLS locus interval on chromosome 11q14. Mamm Genome (in press).
10. Kirschke H, Barrett AJ, Rawlings ND. Proteinases 1: lysosomal cysteine proteinases. In: Sheterline P, ed. Protein profile. Vol 2. London, Academic Press, 1995:1587-643.
11. Rao NV, Rao GV, Hoidal JR. Human dipeptidyl-peptidase I. J Biol Chem 1997;272:10260-5.
12. Paris A, Strukelj B, Pungercar J, Renko M, Dolenc I, Turk V. Molecular cloning and sequence analysis of human preprocathepsin C. FEBS Lett 1995;369:326-30.
13. Dolenc I, Turk B, Pungercic G, Ritonja A, Turk V. Oligomeric structure and substrate induced inhibition of human cathepsin C. J Biol Chem 1995;270;21626-31.
14. Pham CTN, Armstrong RJ, Zimonjic DB, Popescu NC, Payan DG, Ley TJ. Molecular cloning, chromosomal localization, and expression of murine dipeptidyl peptidase I. J Biol Chem 1997;272:10695-703.
15. McGuire MJ, Lipsky PE, Thiele DL. Cloning and characterization of the cDNA encoding mouse dipeptidyl peptidase I (cathepsin C). Biochim Biophys Acta 1997;1351:267-73.
16. Hakeda Y, Kumegawa M. Osteoclasts in bone metabolism. Kaibogaku Zasshi J Anat 1991;66:215-25.
17. Hart TC, Shapira L. Papillon Lefèvre syndrome. Periodontol 2000 1994;6:88-100.
18. Firatli E, Tuzun B, Efeoglu A. Papillon-Lefèvre syndrome. Analysis of neutrophil chemotaxis. J Periodontol 1996;67:617-20.
19. Firatli E, Gurel N, Efeoglu A, Badur S. Clinical and immunological findings in 2 siblings with Papillon-Lefèvre syndrome. J Periodontol 1996;67:1210-15.
20. Itin PH. Classification of autosomal dominant palmoplantar keratoderme: past-present-future. Dermatology 1992;185:163-5.
21. Haim S, Munk J. Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and peculiar deformity of the terminal phalanges. Br J Dermatol 1965;77:42-5.
22. Online Mendelian Inheritance in Man, OMIM™. Johns Hopkins University, Baltimore, MD. MIM number: {MIM 245010}: {5/20/97}. World Wide Web URL: http:// www.ncbi.nlm.nih.gov/omim/
23. Gorlin RJ, Pindborg JJ, Cohen MM Jr. Syndromes of the head and neck. 2nd ed. New York: McGraw-Hill, 1976:373-6.