Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8962716 | European Journal of Medical Genetics | 2018 | 4 Pages |
Abstract
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.
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Authors
Federica Invernizzi, Giovanna Zorzi, Andrea Legati, Giovanni Coppola, Pio D'Adamo, Nardo Nardocci, Barbara Garavaglia, Daniele Ghezzi,