Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family

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

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.

MeSH terms

  • Cleft Palate / genetics*
  • Family*
  • Female
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • T-Box Domain Proteins / genetics*
  • Tunisia

Substances

  • T-Box Domain Proteins
  • TBX22 protein, human