Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8274822 | Journal of the Neurological Sciences | 2016 | 6 Pages |
Abstract
The thyroid transcription factor 1 (TTF-1) is encoded, on chromosome 14q13, by the gene termed TITF-1/NKX2.1. Mutations in this gene have been associated with chorea, hypothyroidism, and lung disease, all included in the “brain-thyroid-lung syndrome.” We here describe two cases of novel missense mutations [NM_003317.3:c.516GÂ >Â T and c.623GÂ >Â C resulting in p.(Gln172His) and p.(Trp208Ser), respectively] in TITF-1/NKX2-1 in non-consanguineous patients. We provide a functional study of the role of the two mutations on the TTF-1 ability to bind DNA and to trans-activate both thyroid and lung specific gene promoters. Our results confirm the difficulty to correlate the TTF-1 activity with the clinical phenotype of affected patients and highlight the need to increase the limited knowledge we have on the activity of TTF-1 in neuronal cells.
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Authors
Claudia Provenzano, Michela Zamboni, Liana Veneziano, Elide Mantuano, Barbara Garavaglia, Giovanna Zorzi, Javier Pagonabarraga, Paola Giunti, Donato Civitareale,