Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

doi:10.1016/j.jns.2015.11.050

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Article

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

Journal of the neurological sciences - 15 Jan 2016

Provenzano Claudia, Zamboni Michela, Veneziano Liana, Mantuano Elide, Garavaglia Barbara, Zorzi Giovanna, Pagonabarraga Javier, Giunti Paola, Civitareale Donato

Abstract excerpt

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.516G>T and c.623G>C resulting in p.(Gln172His) and p.(Trp208Ser), respectively] in...

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PMID: 26723978
DOI: 10.1016/j.jns.2015.11.050

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