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Consanguineous Iranian kindreds with severe Tourette syndrome
Author(s) -
Motlagh Maria G.,
Seddigh Arshia,
Dashti Behnoosh,
Leckman James F.,
AlaghbandRad Javad
Publication year - 2008
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22261
Subject(s) - consanguinity , penetrance , pedigree chart , genetics , locus (genetics) , tics , tourette syndrome , genotyping , allele , disease gene identification , genetic heterogeneity , biology , medicine , psychiatry , gene , exome sequencing , neuroscience , mutation , genotype , phenotype
Abstract The search for vulnerability genes for Tourette syndrome has been ongoing for nearly three decades. The contribution of recessive loci with reduced penetrance is one possibility that has been difficult to explore. Homozygosity mapping has been successfully used to detect recessive loci within populations with high rates of consanguinity. Using this technique, even quite small inbred families can be informative due to autozygosity in which the two alleles at an autosomal locus are identical by descent (i.e., copies of a single ancestral gene). To explore the utility of this approach, we identified 12 consanguineous Iranian families. Remarkably, these families were seen with an unusual natural history characterized by the early onset of vocal tics and coprolalia and frequent comorbidity with obsessive‐compulsive disorder. Genotyping the affected and unaffected members of these pedigrees has the potential to identify rare recessive contributions to this disorder. © 2008 Movement Disorder Society