Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

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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.

Original languageEnglish
Pages (from-to)581-584
Number of pages4
JournalEuropean Journal of Medical Genetics
Issue number10
Publication statusPublished - Oct 1 2018


  • Benign hereditary chorea
  • Brain-lung-thyroid syndrome
  • MBIP
  • NKX2-1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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