title: Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.
abstract: 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.affiliation: Laboratoire de génétique humaine faculté de médecine de Tunis et service maladies héréditaires hôpital Charles Nicolle, Tunis Service ORL, hôpital La Rabta, Tunis.
authors.forename: Myriam
authors.initials: M
authors.lastname: Chaabouni
authors.forename: Nizar
authors.initials: N
authors.lastname: Smaoui
authors.forename: Neila
authors.initials: N
authors.lastname: Benneji
authors.forename: Ridha
authors.initials: R
authors.lastname: M'rad
authors.forename: Lamia Ben
authors.initials: LB
authors.lastname: Jemaa
authors.forename: Slah
authors.initials: S
authors.lastname: Hachicha
authors.forename: Habiba
authors.initials: H
authors.lastname: Chaabouni
mesh_terms: D002972:Cleft Palate / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D020825:T-Box Domain Proteins / Q000235:genetics*; D014416:Tunisia
chemical_list: D020825:T-Box Domain Proteins; C416943:TBX22 protein, human