Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature

TY - JOUR

T1 - Chromosomal rearrangements in Tourette syndrome

T2 - implications for identification of candidate susceptibility genes and review of the literature

AU - Bertelsen, Birgitte

AU - Debes, Nanette Mol

AU - Hjermind, Lena E

AU - Skov, Liselotte

AU - Brøndum-Nielsen, Karen

AU - Tümer, Zeynep

PY - 2013/11

Y1 - 2013/11

N2 - Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown, and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS susceptibility genes.

AB - Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown, and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS susceptibility genes.

U2 - 10.1007/s10048-013-0372-y

DO - 10.1007/s10048-013-0372-y

M3 - Journal article

C2 - 23989977

SN - 1364-6745

VL - 14

SP - 197

EP - 203

JO - Neurogenetics

JF - Neurogenetics

IS - 3-4

ER -