Mutations in TITF-1 are associated with benign hereditary chorea

Guido J. Breedveld, Jeroen W F Van Dongen, Cesare Danesino, Andrea Guala, Alan K. Percy, Leon S. Dure, Peter Harper, Lazarus P. Lazarou, Herma Van Der Linde, Marijke Joosse, Annette Grüters, Marcy E. MacDonald, Bert B A De Vries, Willem Frans M Arts, Ben A. Oostra, Heiko Krude, Peter Heutink

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)971-979
Number of pages9
JournalHuman Molecular Genetics
Issue number8
Publication statusPublished - Apr 15 2002

ASJC Scopus subject areas

  • Genetics


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