Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.10/422
Título: Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea
Autor: Costa, MC
Costa, C
Silva, A
Evangelista, P
Santos, L
Ferro, A
Sequeiros, J
Maciel, P
Palavras-chave: Doenças da tiróide
Doença de Huntington
Predisposição genética para doença
Portugal
Huntington disease
Thyroid diseases
Data: 2005
Editora: Springer
Citação: Neurogenetics. 2005 Dec;6(4):209-15
Resumo: Benign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a slowly progressing or nonprogressing chorea, without cognitive decline or other progressive neurologic dysfunction, but also by the existence of heterogeneity of the clinical presentation within and among families. The genetic cause of BHC is the presence of either point mutations or deletions in the thyroid transcription factor 1 gene (TITF1). We studied a Portuguese BHC family composed of two probands: a mother and her only son. The patients were identified in a neurology out-patient clinic showing mainly involuntary choreiform movements since childhood, myoclonic jerks, falls, and dysarthria. We performed magnetic resonance imaging (MRI), electroencephalogram (EEG), nerve conduction studies, thyroid ultrasound scan, biochemical thyroid tests, and electrocardiogram (ECG). We excluded Huntington disease by appropriate genetic testing and sequenced the entire TITF1 gene for both patients. The patients showed MRI alterations: (1) in the mother, abnormal hyperintense pallida and cortical cerebral/cerebellar atrophy; and (2) in the son, small hyperintense foci in the cerebellum and subtle enlargement of the fourth ventricle. Sequence analysis of the TITF1 gene in these patients revealed the presence of a heterozygous C > T substitution at nucleotide 745, leading to the replacement of a glutamine at position 249 for a premature stop codon. A previously undescribed nonsense mutation in the TITF1 gene was identified as being the genetic cause of BHC in this family.
Peer review: yes
URI: http://hdl.handle.net/10400.10/422
ISSN: 1364-6745
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