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Gene Review

TBX22  -  T-box 22

Homo sapiens

Synonyms: ABERS, CLPA, CPX, T-box protein 22, T-box transcription factor TBX22, ...
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Disease relevance of TBX22


Psychiatry related information on TBX22

  • We describe TBX22 expression in early human development, where expression is found in the palatal shelves and is highest prior to elevation to a horizontal position above the tongue. mRNA is also detected in the base of the tongue in the region of the frenulum that corresponds to the ankyloglossia seen in CPX patients [2].

High impact information on TBX22

  • The spectrum of nonsense, splice-site, frameshift and missense mutations we have identified in this study indicates that the cleft phenotype results from a complete loss of TBX22 function [1].
  • The mouse Tbx22 gene encodes a putative protein of 517 amino acid residues, which shares 72% overall amino acid sequence identity with the human TBX22 protein [3].
  • To understand the role of TBX22 in disease pathogenesis and in normal development, it is necessary to carry out a detailed temporal and spatial gene expression analysis [3].
  • 1. The TBX22 mRNA is 2099 base pairs long and encodes a 400-amino-acids protein containing a T-domain in its NH(2)-terminal region which has the unique feature of missing 20 amino-acids relative to the other known T-domains [4].
  • We show here that this new gene, called TBX22, is composed of seven exons spanning 8.7 kilobases of genomic DNA in Xq21 [4].

Biological context of TBX22

  • TBX22 transcripts were exclusively found in a human fetal cDNA library and no homologous gene could be detected in the mouse genome [4].

Analytical, diagnostic and therapeutic context of TBX22

  • 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 [5].


  1. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Braybrook, C., Doudney, K., Marçano, A.C., Arnason, A., Bjornsson, A., Patton, M.A., Goodfellow, P.J., Moore, G.E., Stanier, P. Nat. Genet. (2001) [Pubmed]
  2. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Braybrook, C., Lisgo, S., Doudney, K., Henderson, D., Marçano, A.C., Strachan, T., Patton, M.A., Villard, L., Moore, G.E., Stanier, P., Lindsay, S. Hum. Mol. Genet. (2002) [Pubmed]
  3. Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. Bush, J.O., Lan, Y., Maltby, K.M., Jiang, R. Dev. Dyn. (2002) [Pubmed]
  4. Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain. Laugier-Anfossi, F., Villard, L. Gene (2000) [Pubmed]
  5. Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family. Chaabouni, M., Smaoui, N., Benneji, N., M'rad, R., Jemaa, L.B., Hachicha, S., Chaabouni, H. Clin. Dysmorphol. (2005) [Pubmed]
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