Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C

Journal of Medical Genetics

Volumn 37, Issue 2, 2000, Pages 88-94

  Hart, T C ^a,b   Soskolne, W A ^e   Hart, P S ^b   Michalec, M D ^b   Zhang, Y ^a   Firatli, E ^c   Van Dyke, T E ^d   Stabholz, A ^e   Zlorogorski, A ^e   Shapira, L ^e  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c ISTANBUL UNIVERSITY   (Turkey)

^d BOSTON UNIVERSITY   (United States)

^e HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Allelic mutations; Cathepsin C mutation; Haim Munk syndrome; Papillon Lefevre syndrome

Indexed keywords

DIPEPTIDYL PEPTIDASE I; DNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; GENE MUTATION; HAPLOTYPE; HUMAN; INDIA; KAIM MUNK SYNDROME; KERATOSIS PALMOPLANTARIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0034056862     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.2.88     Document Type: Article

References (30)

1. Haim S, Munk J. Keratosis palmo-plantaris congenita, with periodontosis, archnodactyly and peculiar deformity of the terminal phalanges. Br J Dermatol 1965;77:42-54.
2. Puliyel JM, Sridharan Iyer KS. A syndrome of keratosis palmo-plantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acroosteolysis. Br J Dermatol 1986;115:243-8.
3. Online Mendelian Inheritance in Man, OMIM™. Johns Hopkins University, Baltimore, MD, MIM Number: {245010} {5/20/1997}. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
4. Online Mendelian Inheritance in Man, OMIM™. Johns Hopkins University, Baltimore, MD. MIM Number: {245000} {8/20/1998}. World Wide Web URL: www.ncbi.nlm.nih.gov/omim/
5. Hacham-Zadeh S, Schaap T, Cohen MM. A genetic analysis of the Papillon-Lefèvre syndrome in a Jewish family from Cochin. Am J Med Genet 1978;2:153-7.
6. 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.
7. Gorlin RJ, Pindborg JJ, Cohen MM Jr. Syndromes of the head and neck. 2nd ed. New York: McGraw-Hill, 1976:373-6.
8. 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.
9. Gorlin RJ, Cohen MM Jr, Levin LS. Syndromes of the head and neck. 3rd ed. Oxford Monographs on Medical Genetics No 19. New York, Oxford University Press, 1990:853-4.
10. Fischer J, Blanchet-Bardon C, Prud'homme JF, et al. Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region. Eur J Hum Genet 1997;5:156-60.
11. Laass MW, Hennies HC, Preis S, et al. Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. Hum Genet 1997;101:376-82.
12. 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.
13. Hart T, Hart PS, Bowden D, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. J Med Genet 1999;36:881-7.
14. Hart TC, Stabholz A, Meyle J, et al. Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. J Periodont Res 1997;32:81-9.
15. Hart TC, Walker SJ, Hart PS, et al. An integrated physical and genetic map of the PLS locus interval on chromosome 11q14. Mammal Genome (in press).
16. Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992;359:794-801.
17. Itin PH. Classification of autosomal dominant palmoplantar keratoderma: past-present-future. Dermatology 1992;185:163-5.
18. Lucker GP, Van de Kerkhof PC, Steijlen PM. The hereditary palmoplantar keratoses: an updated review and classification. Br J Dermatol 1994;131:1-14.
19. Smith P, Rosenzweig KA. Seven cases of Papillon-Lefèvre syndrome. Periodontics 1967;5:42-6.
20. Cohen T, Bloch N. Immigrant Jews from Cochin. In: Goldschmidt E, ed. The genetics of migrant and isolate populations. Baltimore: Williams & Wilkins, 1963:352.
21. Wilkie AO. Craniosynostosis: genes and mechanisms. Hum Mol Genet 1997;6:1647-56.
22. Rao NV, Rao GV, Hoidal JR. Human dipeptidyl-peptidase I. Gene characterization, localization, and expression. J Biol Chem 1997;272:10260-5.
23. Hakeda Y. Kumegawa M. Osteoclasts in bone metabolism. Kaibogaku Zasshi - J Anat 1991;66:215-25.
24. Hola-Jamriska L, Tort JF, Dalton JP, et al. Cathepsin C from Schistosoma japonicum; cDNA encoding the preproenzyme and its phylogenetic relationships. Eur J Biochem 1998;255:527-34.
25. Wolters PJ, Raymond WW, Blount JL, Caughey GH. Regulated expression, processing, and secretion of dog mast cell dipeptidyl peptidase I. J Biol Chem 1998;25:15514-20.
26. Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmar-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.
27. Mackenzie IC, Rittman G, Gao Z, Leigh I, Lane EB. Patterns of cytokeratin expression in human gingival epithelia. J Periodont Res 1991;26:468-78.
28. Hormia M, Sahlberg C, Thesleff I, Airenne T. The epithelium-tooth interface - a basal lamina rich in laminin-5 and lacking other known laminin isoforms. J Dent Res 1998;77:1479-85.
29. Stabholz A, Taichman NS, Soskolne WA. Occurrence of Actinobacillus actinomycetemcomitans and anti leukotoxin antibodies in some members of an extended family affected by Papillon-Lefèvre syndrome. J Periodontol 1995;66:653-7.
30. Hart TC, Shapira L. Papillon Lefèvre syndrome. Periodontol 2000 1994;6:88-100.