An individual with Gilles de la Tourette syndrome and Smith-Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes?
One rare chromosome deletion ties Tourette and Smith-Magenis syndromes together and points geneticists toward new tic-related genes.
01Research in Context
What this study did
Doctors studied one man who had both Tourette syndrome and Smith-Magenis syndrome.
They looked at his DNA to see what the two diagnoses might share.
What they found
A tiny missing piece on chromosome 17 showed up. The team thinks this spot could hold genes that make tics more likely.
Because the deletion is rare, the idea needs more proof.
How this fits with other research
A 2016 review by B et al. looked at a different deletion on chromosome 22. They also link a small missing chunk to later mental-health problems. Both papers say, "Check the chromosomes when tics or psychosis appear."
Li et al. (2025) used big genetic data and found that low zinc, magnesium, or B12 may raise Tourette risk. The new case points to DNA structure, while Chanhua points to nutrients that support the same DNA region. The ideas fit: genes and diet could both matter.
A 2007 case by A et al. tied a speck of extra chromosome 21 to language problems only. Like our target paper, it shows that even tiny chromosome changes can shape one part of development. Together, the studies say, "Small DNA differences can have big, narrow effects."
Why it matters
If a client has tics plus sleep or mood issues, ask the doctor about genetic testing. A micro-array can spot 17p11.2 deletions in one blood draw. Knowing the cause gives families a clear label and helps you plan behavior plans that fit the child’s real needs.
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02At a glance
03Original abstract
This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric abnormalities should warrant further genetic investigation of chromosome 17p11.2 deletion site as it may be a promising region for containing a gene(s) of aetiological importance in the development of the GTS phenotype. Alternatively, the co-occurrence may be due to the common endophenotypic mechanisms shared by these disorders, rather than being specific for GTS that could be explored using strategies of quantitative trait loci - endophenotype-based approach. Research into this genomic region may also benefit psychiatric genetic research in enhancing understanding of the biological and molecular underpinnings of common behavioural problems that are seen in both GTS and SMS. This would lead to advancement in neurobehavioural/neuropsychiatric genetics which will help in further explaining the broader perspective of gene-brain-behaviour interrelationships.
Journal of intellectual disability research : JIDR, 2007 · doi:10.1111/j.1365-2788.2006.00943.x