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

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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


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.