TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population

Clin Genet. 2007 Nov;72(5):478-83. doi: 10.1111/j.1399-0004.2007.00891.x. Epub 2007 Sep 14.

Abstract

Mutations in the TBX22 gene underlie an X-linked malformation syndrome with cleft palate (CP) and ankyloglossia. Its mutations also result in non-syndromic CP in some populations. To investigate whether mutations in TBX22 play a part in the formation of non-syndromic CP in the Thai population, we performed mutation analysis covering all the coding regions of the TBX22 gene in 53 unrelated Thai patients with non-syndromic CP. We identified four potentially pathogenic mutations, 359G-->A (R120Q), 452G-->T (R151L), 1166C-->A (P389Q), and 1252delG in four different patients. All mutations were not detected in at least 112 unaffected ethnic-matched control chromosomes and had never been previously reported. R120Q and R151L, found in two sporadic cases, were located in the DNA binding T-box domain. P389Q and 1252delG, found in two familial cases, were at the carboxy-terminal region, which has never been described. Our study indicates that TBX22 mutations are responsible for a significant proportion of Thai non-syndromic CP cases confirming its importance as a frequent cause of non-syndromic CP across different populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cleft Palate / genetics*
  • DNA Mutational Analysis
  • Female
  • Gene Frequency*
  • Genetic Testing
  • Genetics, Population
  • Humans
  • Male
  • Molecular Sequence Data
  • Sequence Homology, Amino Acid
  • T-Box Domain Proteins / genetics*
  • Thailand

Substances

  • T-Box Domain Proteins
  • TBX22 protein, human