Mutations in the TTF2 gene are not a common finding in patients with isolated cleft palate and choanal atresia

The thyroid transcription factor-2 (TTF-2) plays a crucial role in the development of ectodermand endoderm-derived structures, including the thyroid. In mouse, titf2 has been implicated in palate, epiglottis, pharynx and choanae morphogenesis in addition to thyroid development. In humans, forkhead domain mutations are responsible for Bamforth syndrome, characterized by thyroid agenesis, cleft palate, spiky hair and choanal atresia, and for a new nosographic condition with thyroid agenesis and cleft palate. Here we studied a possible involvement of the TTF2 gene in the pathogenesis of isolated cleft palate and choanal atresia in eight children with no other congenital anomalies. Genomic DNA was extracted from lymphocytes, and the entire coding region of the TTF2 gene was determined by SSCP and sequence analysis. No mutations were found. These results suggest that TTF-2 mutations are not a frequent cause of nonsyndromic defects involving palate and bucconasal membrane development.