A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis


Creative Commons License

Baris I., Arisoy A. E., Smith A., Agostini M., Mitchell C. S., Park S. M., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.91, no.10, pp.4183-4187, 2006 (SCI-Expanded) identifier identifier identifier

Abstract

Background: Thyroid dysgenesis is the most frequent cause of congenital hypothyroidism (CH), and its genetic basis is largely unknown. Hitherto, two mutations in the human thyroid transcription factor 2 (TTF-2) gene have been described in unrelated cases of CH with cleft palate, spiky hair, variable choanal atresia, and complete thyroid agenesis. Here, we describe a novel TTF-2 mutation in a female child resulting in syndromic CH in the absence of thyroid agenesis.