ea0015oc34 | Thyroid | SFEBES2008
Castanet Mireille
, Mallya Uma
, Agostini Maura
, Mitchell Catherine
, Polak Michel
, Demuth Stephanie
, Raymond Lucy
, Gurnell Mark
, Chatterjee Krishna
Congenital hypothyroidism (CH), occurs with a frequency of one in 34000 and is most commonly due (85%) to complete or partial failure of thyroid gland development (dysgenesis). Several transcription factors (TTF-1/Nkx2.1, TTF-2/FOXE1, PAX-8), are highly expressed in the developing rodent thyroid. We first showed that the FKHL15 gene is the human homologue of TTF-2, identifying a homozygous, loss-of-function, mutation in two siblings with CH, thyroid agenesis, clef...