Candidate locus for chorea and tic disorders at 15q?
1Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.
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.
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