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- Title
Mutations in TITF-1 are associated with benign hereditary chorea.
- Authors
Breedveld, Guido J.; van Dongen, Jeroen W.F.; Danesino, Cesare; Guala, Andrea; Percy, Alan K.; Dure, Leon S.; Harper, Peter; Lazarou, Lazarus P.; van der Linde, Herma; Joosse, Marijke; Grüters, Annette; MacDonald, Marcy E.; de Vries, Bert B.A.; Arts, Willem Frans M.; Oostra, Ben A.; Krude, Heiko; Heutink, Peter
- Abstract
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. In contrast to Huntington disease (MIM 143100), BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial dystonia and gait disturbances. Previously, we identified a locus for BHC on chromosome 14 and subsequently identified additional independent families linked to the same locus. Recombination analysis of all chromosome 14-linked families resulted initially in a reduction of the critical interval for the BHC gene to 8.4 cM between markers D14S49 and D14S278. More detailed analysis of the critical region in a small BHC family revealed a de novo deletion of 1.2 Mb harboring the TITF-1 gene, a homeodomain-containing transcription factor essential for the organogenesis of the lung, thyroid and the basal ganglia. Here we report evidence that mutations in TITF-1 are associated with BHC.
- Publication
Human Molecular Genetics, 2002, Vol 11, Issue 8, p971
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/11.8.971