Document Detail

A 223-kb de novo deletion of PAX9 in a patient with oligodontia.
MedLine Citation:
PMID:  20485064     Owner:  NLM     Status:  MEDLINE    
The PAX (paired box) genes are a family of transcription factors critical for fetal growth and organogenesis. Abnormalities of PAX2, PAX3, PAX6, and PAX9 are associated with various congenital craniofacial anomalies, including tooth abnormalities. We present here a boy with oligodontia and language delay. Dental x-rays showed that he lacked primary molars and was missing most of his permanent teeth. A genome-wide, single-nucleotide polymorphism-based microarray revealed a de novo 223-kb heterozygous deletion on 14q13.3 that included the PAX9 gene. In addition, the array showed 2 copies of the X chromosome and 1 copy of the Y chromosome, diagnostic for Klinefelter syndrome. The findings in this patient illustrate the role of the PAX9 gene in tooth development and provide the first example of a de novo deletion of 14q13.3 manifesting primarily with oligodontia. This report also supports the utility of genome-wide microarrays in determining the genetic cause of craniofacial abnormalities.
Chad R Haldeman-Englert; Alisha Biser; Elaine H Zackai; Jeffrey E Ming
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of craniofacial surgery     Volume:  21     ISSN:  1536-3732     ISO Abbreviation:  J Craniofac Surg     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-05-20     Completed Date:  2010-09-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9010410     Medline TA:  J Craniofac Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  837-9     Citation Subset:  D    
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
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MeSH Terms
Anodontia / genetics*
Child, Preschool
Klinefelter Syndrome / diagnosis
Language Disorders / genetics
PAX9 Transcription Factor / genetics*
Polymorphism, Single Nucleotide
Sequence Deletion
Reg. No./Substance:
0/PAX9 Transcription Factor

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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