Document Detail


TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.
MedLine Citation:
PMID:  17868388     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mutations in the TBX22 gene underlie an X-linked malformation syndrome with cleft palate (CP) and ankyloglossia. Its mutations also result in non-syndromic CP in some populations. To investigate whether mutations in TBX22 play a part in the formation of non-syndromic CP in the Thai population, we performed mutation analysis covering all the coding regions of the TBX22 gene in 53 unrelated Thai patients with non-syndromic CP. We identified four potentially pathogenic mutations, 359G-->A (R120Q), 452G-->T (R151L), 1166C-->A (P389Q), and 1252delG in four different patients. All mutations were not detected in at least 112 unaffected ethnic-matched control chromosomes and had never been previously reported. R120Q and R151L, found in two sporadic cases, were located in the DNA binding T-box domain. P389Q and 1252delG, found in two familial cases, were at the carboxy-terminal region, which has never been described. Our study indicates that TBX22 mutations are responsible for a significant proportion of Thai non-syndromic CP cases confirming its importance as a frequent cause of non-syndromic CP across different populations.
Authors:
K Suphapeetiporn; S Tongkobpetch; P Siriwan; V Shotelersuk
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-09-14
Journal Detail:
Title:  Clinical genetics     Volume:  72     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-10-15     Completed Date:  2008-01-04     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  478-83     Citation Subset:  IM    
Affiliation:
Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Base Sequence
Cleft Palate / genetics*
DNA Mutational Analysis
Female
Gene Frequency*
Genetic Testing
Genetics, Population
Humans
Male
Molecular Sequence Data
Sequence Homology, Amino Acid
T-Box Domain Proteins / genetics*
Thailand
Chemical
Reg. No./Substance:
0/T-Box Domain Proteins; 0/TBX22 protein, human

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


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