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Human Molecular Genetics, 2002, Vol. 11, No. 8 971-979
© 2002 Oxford University Press

Mutations in TITF-1 are associated with benign hereditary chorea

Guido J. Breedveld1, Jeroen W.F. van Dongen1, Cesare Danesino2, Andrea Guala3, Alan K. Percy4, Leon S. Dure4, Peter Harper5, Lazarus P. Lazarou5, Herma van der Linde1, Marijke Joosse1, Annette Grüters6, Marcy E. MacDonald7, Bert B.A. de Vries8, Willem Frans M. Arts9, Ben A. Oostra1, Heiko Krude7 and Peter Heutink1,*

1Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands 2Department of Medical Genetics, University of Pavia, Italy 3Pediatric UAO, ASL 11, Hospital SS Pietro e Paolo, Borgosesesia, Italy 4Division of Pediatric Neurology, University of Alabama at Birmingham, USA 5Department of Medicine, University of Wales, Cardiff, UK 6Otto-Heubner-Centrum for Pediatrics, Charite, Humbold University, Berlin, Germany 7Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, USA 8Department of Human Genetics, University Medical Center Nijmegen, The Netherlands 9Department of Pediatric Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands

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.

* To whom correspondence should be addressed. Department of Clinical Genetics, Erasmus Medical Center Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands. Tel: +31 104088136; Fax: +31 104089489; E-mail: heutink{at}kgen.fgg.eur.nl


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