Register for email alerts and news feeds:
This journal | BMJ Group
rss
Journal of Medical Genetics 2000;37:95-101; doi:10.1136/jmg.37.2.95
Copyright © 2000 by the BMJ Publishing Group Ltd.
J Med Genet 2000;37:95-101 ( February )

Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation

T C Harta, P S Hartb, M D Michalecb, Y Zhanga, M L Marazitab c, M Cooperc, O M Yassind, M Nusiere, S Walkerf

a Department of Oral Medicine/Pathology, University of Pittsburgh, School of Dental Medicine, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15261, USA, b Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pittsburgh, PA 15261, USA, c Cleft Palate- Craniofacial Center, University of Pittsburgh, School of Dental Medicine, Pittsburgh, PA 15261, USA, d Department of Paediatric Dentistry, Al-Amir Rashid Hospital, Royal Medical Services, Jordan, e Department of Biochemistry and Molecular Biology, Jordan University of Science and Technology, School of Medicine, Irbid, Jordan, f Department of Pediatrics, Wake Forest University, School of Medicine, Winston Salem, NC 27157, USA

Correspondence to: Dr T C Hart

Revised version received 3 December 1999; Accepted for publication 4 December 1999

Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. The condition may occur as part of a recognised syndrome or may occur as an isolated finding. Both autosomal dominant and recessive forms of Mendelian transmission have been reported for PPP. We report a consanguineous Jordanian family with four members affected by PPP in two nuclear sibships. The parents of the affected subjects are first cousins. We have localised a gene of major effect for PPP in this kindred (Zmax=3.55 for D11S901 at theta =0.00) to a 14 cM genetic interval on chromosome 11q14 flanked by D11S916 and D11S1367. This PPP candidate interval overlaps the region of chromosome 11q14 that contains the cathepsin C gene responsible for Papillon-Lefèvre and Haim-Munk syndromes. Sequence analysis of the cathepsin C gene from PPP affected subjects from this Jordanian family indicated that all were homozygous for a missense mutation (1040Aright-arrowG) that changes a tyrosine to a cysteine. All four parents were heterozygous carriers of this Tyr347Cys cathepsin C mutation. None of the family members who were heterozygous carriers for this mutation showed any clinical findings of PPP. None of the 50 controls tested were found to have this Tyr347Cys mutation. This is the first reported gene mutation for non-syndromic periodontitis and shows that non-syndromic PPP is an allelic variant of the type IV palmoplantar ectodermal dysplasias.


Keywords: prepubertal periodontitis; periodontal disease; cathepsin C; linkage

© 2000 by J Med Genet
Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?

This article has been cited by other articles:

  • Noack, B., Gorgens, H., Hempel, U., Fanghanel, J., Hoffmann, Th., Ziegler, A., Schackert, H.K. (2008). Cathepsin C Gene Variants in Aggressive Periodontitis. JDR 87: 958-963 [Abstract] [Full Text]  
  • Yang, Y., Bai, X., Liu, H., Li, L., Cao, C., Ge, L. (2007). Novel Mutations of Cathepsin C Gene in Two Chinese Patients with Papillon-Lefevre Syndrome. JDR 86: 735-738 [Abstract] [Full Text]  
  • Noack, B., Gorgens, H., Hoffmann, Th., Fanghanel, J., Kocher, Th., Eickholz, P., Schackert, H.K. (2004). Novel Mutations in the Cathepsin C Gene in Patients with Pre-pubertal Aggressive Periodontitis and Papillon-Lefevre Syndrome. JDR 83: 368-370 [Abstract] [Full Text]  
  • Almuneef, M., Al Khenaizan, S., Al Ajaji, S., Al-Anazi, A. (2003). Pyogenic Liver Abscess and Papillon-Lefevre Syndrome: Not a Rare Association. Pediatrics 111: e85-88 [Abstract] [Full Text]  
  • Dickinson, D.P. (2002). CYSTEINE PEPTIDASES OF MAMMALS: THEIR BIOLOGICAL ROLES AND POTENTIAL EFFECTS IN THE ORAL CAVITY AND OTHER TISSUES IN HEALTH AND DISEASE. CROBM 13: 238-275 [Abstract] [Full Text]  
  • Hart, P S, Zhang, Y, Firatli, E, Uygur, C, Lotfazar, M, Michalec, M D, Marks, J J, Lu, X, Coates, B J, Seow, W K, Marshall, R, Williams, D, Reed, J B, Wright, J T, Hart, T C (2000). Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients. J. Med. Genet. 37: 927-932 [Abstract] [Full Text]  
  • GORLIN, R. J (2000). Of palms, soles, and gums. J. Med. Genet. 37: 81-82 [Full Text]  

This Article

Services
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Genetics jobs

Show me all >>