@article {10759,
	title = {Benign hereditary chorea and deletions outside NKX2-1: What{\textquoteright}s the role of MBIP?},
	journal = {Eur J Med Genet},
	volume = {61},
	year = {2018},
	month = {2018 Oct},
	pages = {581-584},
	abstract = {<p>Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrome. We report on a three-generation Italian family, with 6 subjects presenting BHC and harboring a genomic deletion adjacent to NKX2-1 and including the gene MBIP, recently proposed to be relevant for the pathogenesis of brain-lung-thyroid syndrome. We observed a clear reduction of NKX2-1 transcript levels in fibroblasts from our patients compared to controls; this finding suggests that MBIP deletion affects NKX2-1 expression, mimicking haploinsufficiency caused by classical NKX2-1 related mutations.</p>},
	keywords = {Cells, Cultured, Chorea, Haploinsufficiency, Humans, Intracellular Signaling Peptides and Proteins, Pedigree, Sequence Deletion, Thyroid Nuclear Factor 1},
	issn = {1878-0849},
	doi = {10.1016/j.ejmg.2018.03.011},
	author = {Invernizzi, Federica and Zorzi, Giovanna and Legati, Andrea and Coppola, Giovanni and d{\textquoteright}Adamo, Pio and Nardocci, Nardo and Garavaglia, Barbara and Ghezzi, Daniele}
}
