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

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Invernizzi F,Zorzi G,Legati A,Coppola G,D'Adamo P,Nardocci N,Garavaglia B,Ghezzi D

doi

10.1016/j.ejmg.2018.03.011

subject

Has Abstract

pub_date

2018-10-01 00:00:00

pages

581-584

issue

10

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(17)30765-6

journal_volume

61

pub_type

杂志文章

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