Guala, A. http://repub.eur.nl/res/aut/12903/ List of Publications en http://repub.eur.nl/static-eur/img/logo.png RePub, Erasmus University Rotterdam http://repub.eur.nl Deletion of PAX9 and oligodontia: A third family and review of the literature (Article) http://repub.eur.nl/res/pub/14592/ 2008-11-01T00:00:00Z Objective. This study was conducted to report a family affected by benign hereditary chorea in which a large deletion including TTF1, PAX9, and other genes was identified and results in oligodontia. Methods. Clinical and radiological studies of the two affected members (mother and daughter) were used to describe the oligodontia present in both of them. Results. The missing teeth in both patients are described in detail, and these data are compared with the dental anomalies observed in the only two other families with deletions of PAX9 and with the data available for 12 previously reported families carrying different types of PAX9 mutations. Conclusions. There is a clinical relevance for recognizing such families, and offering available therapies since childhood is stressed. Some genotype-phenotype correlations between PAX9 mutations and dental anomalies can be drawn. Mutations in TITF-1 are associated with benign hereditary chorea (Article) http://repub.eur.nl/res/pub/9889/ 2002-01-01T00:00:00Z 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.