Document Detail

A Novel Mutation of NKX2-1 Affecting 2 Generations With Hypothyroidism and Choreoathetosis: Part of the Spectrum of Brain-Thyroid-Lung Syndrome.
MedLine Citation:
PMID:  24453141     Owner:  NLM     Status:  Publisher    
The NKX2-1 (TTF-1 or TITF-1) gene on chromosome 14q13 codes for the thyroid transcription factor 1 (TTF-1). It is expressed in the developing brain, lung, and thyroid. Defects have been associated with chorea, hypothyroidism, and lung disease, comprising the "brain-thyroid-lung syndrome." We describe here 3 cases of novel missense mutation (c.626G>C; p.Arg209Pro) in NKX2-1 in 2 generations of a nonconsanguinous family. Firstly 2 sons were affected by childhood-onset hypothyroidism and a movement disorder characterized by ataxia in the early years followed by the emergence of a superimposed chorea. The mutation was also found in the granddaughter, when she presented with the same clinical features. We hypothesize that the mutation arose as a result of gonadal mosaicism, as the mutation was not detected in leucocyte DNA from either grandparent. The features are consistent with a diagnosis of Brain-thyroid-lung syndrome, which previously could have been classified as benign hereditary chorea with hypothyroidism.
Scott Williamson; Martin Kirkpatrick; Stephen Greene; David Goudie
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-1-21
Journal Detail:
Title:  Journal of child neurology     Volume:  -     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2014 Jan 
Date Detail:
Created Date:  2014-1-23     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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