Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

CiteULike is a free service for managing and discovering scholarly references - click here to get started.

Sign In to gain access to subscriptions and/or personal tools.
Journal of Dental Research
This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Kim, J.-W.
Right arrow Articles by Hu, J.C.-C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kim, J.-W.
Right arrow Articles by Hu, J.C.-C.
Right arrowPubmed/NCBI databases
*OMIM
*Genetics Home Reference
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

Clinical

Novel MSX1 Frameshift Causes Autosomal-dominant Oligodontia

J.-W. Kim1,2, J.P. Simmer1, B.P.-J. Lin3 and J.C.-C. Hu1,*

1 Department of Orthodontics and Pediatric Dentistry, University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA;
2 Seoul National University, College of Dentistry, Department of Pediatric Dentistry & Dental Research Institute, 28-2 Yongon-Dong, Chongno-Gu, Seoul, Korea 110-768; and
3 University of California at San Francisco, School of Dentistry, Department of Growth and Development, Division of Pediatric Dentistry, 513 Parnassus Avenue, S-630, San Francisco, CA 94143-0430, USA

Correspondence: * corresponding author, janhu{at}umich.edu

Can kindreds with tooth agenesis caused by MSX1 or PAX9 mutations be distinguished by their phenotypes? We have identified an MSX1second bicuspids and mandibular central incisors. The dominant phenotype is apparently due to haploinsufficiency. We analyzed patterns of partial tooth agenesis in seven kindreds with defined MSX1 mutations and ten kindreds with defined PAX9 mutations. The probability of missing a particular type of tooth is always bilaterally symmetrical, but differences exist between the maxilla and mandible. MSX1-associated oligodontia typically includes missing maxillary and mandibular second bicuspids and maxillary first bicuspids. The most distinguishing feature of MSX1-associated oligodontia is the frequent (75%) absence of maxillary first bicuspids, while the most distinguishing feature of PAX9-associated oligodontia is the frequent (> 80%) absence of the maxillary and mandibular second molars.

Key Words: oligodontia • homeobox • autosomal dominant • MSX1 • frameshift • PAX9

Journal of Dental Research, Vol. 85, No. 3, 267-271 (2006)
DOI: 10.1177/154405910608500312
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   Add to Twitter Twitter    What's this?


This article has been cited by other articles:


Home page
 JDRHome page
S. Song, D. Han, H. Qu, Y. Gong, H. Wu, X. Zhang, N. Zhong, and H. Feng
EDA Gene Mutations Underlie Non-syndromic Oligodontia
Journal of Dental Research, February 1, 2009; 88(2): 126 - 131.
[Abstract] [Full Text] [PDF]