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.
|Titolo:||Benign hereditary chorea and deletions outside NKX2-1 : what's the role of MBIP?|
|Parole Chiave:||Benign hereditary chorea; Brain-lung-thyroid syndrome; MBIP; NKX2-1; Genetics; Genetics (clinical)|
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
Settore MED/26 - Neurologia
|Data di pubblicazione:||ott-2018|
|Digital Object Identifier (DOI):||10.1016/j.ejmg.2018.03.011|
|Appare nelle tipologie:||01 - Articolo su periodico|