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Genetic Analysis of TTF-2 Gene in Children with Congenital Hypothyroidism and Cleft Palate, Congenital Hypothyroidism, or Isolated Cleft Palate
- Source :
- Thyroid; August 2004, Vol. 14 Issue: 8 p584-588, 5p
- Publication Year :
- 2004
-
Abstract
- Homozygous null mice for thyroid transcription factor (TTF)-2 gene exhibit cleft palate and thyroid malformation. We performed a genetic analysis of the TTF-2 gene in 2 children with congenital hypothyroidism (CH) and cleft palate, 45 children with thyroid dysgenesis, 19 children with isolated cleft palate or cleft lip, 4 patients with thyroid hemiagenesis. The entire coding-region of the TTF-2 gene was analyzed by direct sequencing. Direct sequencing of the TTF-2 gene revealed polymorphisms in the length of the polyalanine tract. The most frequent stretch length was 14 residues and it was found in 50 of 70 (71%) and in 45 of 53 (85%) normal healthy controls. A polyalanine tract of 16 residues in the heterozygous state was seen in 18 of 70 (26%) cases and in 4 of 53 (7%) normal subjects. In 1 of 4 (25%) case of hemiagenesis a polyalanine tract of 16 residues in the homozygous state was observed. In 1 of 26 agenesis the polyalanine tract consisted of 12 residues in the heterozygous state. Direct sequencing also revealed the presence of two silent polymorphisms. No mutations were identified in the TTF-2 gene. In conclusion, our results show that no genetic alteration was present in the TTF-2 gene of these patients, suggesting that defects in the TTF-2 gene are a rare event.
Details
- Language :
- English
- ISSN :
- 10507256 and 15579077
- Volume :
- 14
- Issue :
- 8
- Database :
- Supplemental Index
- Journal :
- Thyroid
- Publication Type :
- Periodical
- Accession number :
- ejs6314703
- Full Text :
- https://doi.org/10.1089/1050725041692864