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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 91 Issue: 10
  • Publication Date: 2006
  • Doi Number: 10.1210/jc.2006-0405
  • Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.4183-4187

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.