Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate

Massimo Tonacchera, Mariaelena Banco, Paola Lapi, Caterina Di Cosmo, Anna Perri, Lucia Montanelli, Lidia Moschini, Gianluca Gatti, Daniele Gandini, Alessandro Massei, Patrizia Agretti, Giuseppina De Marco, Paolo Vitti, Luca Chiovato, Aldo Pinchera

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)584-588
Number of pages5
JournalThyroid
Volume14
Issue number8
DOIs
Publication statusPublished - Aug 2004

ASJC Scopus subject areas

  • Endocrinology

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    Tonacchera, M., Banco, M., Lapi, P., Di Cosmo, C., Perri, A., Montanelli, L., Moschini, L., Gatti, G., Gandini, D., Massei, A., Agretti, P., De Marco, G., Vitti, P., Chiovato, L., & Pinchera, A. (2004). Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. Thyroid, 14(8), 584-588. https://doi.org/10.1089/1050725041692864