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. 2005 Jan;14(1):23-25.

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family

Myriam Chaabouni  1 , Nizar Smaoui, Neila Benneji, Ridha M'rad, Lamia Ben Jemaa, Slah Hachicha, Habiba Chaabouni
Affiliations
  • PMID: 15602089

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family

Myriam Chaabouni et al. Clin Dysmorphol. 2005 Jan.

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.

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References

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