Document Detail


Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.
MedLine Citation:
PMID:  15602089     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cleft palate with ankyloglossia (CPX; OMIM 303400) is inherited as a Mendelian semidominant X-Linked disorder. Linkage studies resulted in mapping CPX to Xq13-q 21-31 region. TBX22 was identified as causing CPX. We report a new mutation in a Tunisian family and the first Arab family with X-Linked cleft palate and ankyloglossia. The family includes 6 affected members, 4 males and 2 females. Linkage study was performed using 9 microsatellite markers surrounding the CPX locus with a maximum lod score 1.81 at theta=0 with several markers. Sequence analysis of TBX22 gene revealed a novel change c.358C>T in exon 3 (R120W) located in the T-BOX domain; this change was present in all affected members and none of the 100 controls. A second modification in exon 4 (c.559G>A) predicted to result in a nonconservative substitution (E187 K) was present in the affected members but also in 2 controls, suggesting a polymorphism which functional role cannot be excluded without further study.
Authors:
Myriam Chaabouni; Nizar Smaoui; Neila Benneji; Ridha M'rad; Lamia Ben Jemaa; Slah Hachicha; Habiba Chaabouni
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  14     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2005 Jan 
Date Detail:
Created Date:  2004-12-16     Completed Date:  2005-05-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  23-5     Citation Subset:  IM    
Affiliation:
Laboratoire de génétique humaine faculté de médecine de Tunis et service maladies héréditaires hôpital Charles Nicolle, Tunis.
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MeSH Terms
Descriptor/Qualifier:
Cleft Palate / genetics*
Family*
Female
Humans
Male
Mutation*
Pedigree
T-Box Domain Proteins / genetics*
Tunisia
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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