| First Author | Breedveld GJ | Year | 2002 |
| Journal | Hum Mol Genet | Volume | 11 |
| Issue | 8 | Pages | 971-9 |
| PubMed ID | 11971878 | Mgi Jnum | J:76175 |
| Mgi Id | MGI:2178741 | Doi | 10.1093/hmg/11.8.971 |
| Citation | Breedveld GJ, et al. (2002) Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 11(8):971-9 |
| abstractText | 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. |
