title: Candidate locus for chorea and tic disorders at 15q?
abstract: Cases of chromosomal aberrations are known to be associated with specific phenotypic abnormalities, including tics and chorea. We report the case of a 10-year-old caucasian boy with tics, chorea, and a de novo chromosome 15 paracentric inversion, 46,XY,inv(15) (q13;q22.3) identified with G-banding chromosome analysis (trypsin-Giemsa staining). Subsequent fluorescence in situ hybridization with locus-specific small nuclear ribonucleoprotein polypeptide N gene probe confirmed that the breakpoints of the inversion were distal to 15q12. Mutation analysis showed no mutation or polymorphism in the thyroid transcription factor 1 gene (TITF1). The results suggest that 15q is a region to explore for candidate genes of etiologic importance in the development of tics and chorea.
authors.affiliation: Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: Jankovic
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D001921:Brain / Q000503:physiopathology; D002648:Child; D002819:Chorea / Q000235:genetics* / Q000503:physiopathology; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D013981:Tic Disorders / Q000235:genetics* / Q000503:physiopathology