SLITRK1
Encyclopedia
SLITRK1 is a human gene
on chromosome 13q31.1. In 2005, medical researchers observed a de novo chromosomal abnormality in a patient with Tourette syndrome
(TS) which broke the patient's chromosome near SLITRK1. In screening of additional patients, the authors observed a frameshift mutation
in SLITRK1 in a patient with TS and the same rare non-coding variant in two patients with TS. These variants were not found in several thousand controls supporting an association of the variants with TS. Mutations in SLITRK1 were postulated as a rare cause of Tourette syndrome.
It is hypothesized that this mutation in SLITRK1 may be a direct or indirect cause (tourettism
) of Tourette syndrome in this small subset (1–2%) of Tourette's patients. The ultimate impact of this research finding to the population of Tourette Syndrome patients as a whole is unclear. SLITRK1, while not a major gene implicated in the cause of Tourette syndrome, can help contribute to understanding of Tourette's.
A subsequent examination of the region of the SLITRK1 gene found the mutation in none of 82 patients with Tourette syndrome. The authors concluded that tests to detect variant(s) in the gene probably would have little diagnostic utility.
The SLITRK1 gene has also been implicated in a small percentage of cases of trichotillomania
, an impulse disorder where the patients compulsively pull their own hair.
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
on chromosome 13q31.1. In 2005, medical researchers observed a de novo chromosomal abnormality in a patient with Tourette syndrome
Tourette syndrome
Tourette syndrome is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple physical tics and at least one vocal tic; these tics characteristically wax and wane...
(TS) which broke the patient's chromosome near SLITRK1. In screening of additional patients, the authors observed a frameshift mutation
Frameshift mutation
A frameshift mutation is a genetic mutation caused by indels of a number of nucleotides that is not evenly divisible by three from a DNA sequence...
in SLITRK1 in a patient with TS and the same rare non-coding variant in two patients with TS. These variants were not found in several thousand controls supporting an association of the variants with TS. Mutations in SLITRK1 were postulated as a rare cause of Tourette syndrome.
It is hypothesized that this mutation in SLITRK1 may be a direct or indirect cause (tourettism
Tourettism
Tourettism refers to the presence of Tourette-like symptoms in the absence of Tourette syndrome, as the result of other diseases or conditions, known as "secondary causes"....
) of Tourette syndrome in this small subset (1–2%) of Tourette's patients. The ultimate impact of this research finding to the population of Tourette Syndrome patients as a whole is unclear. SLITRK1, while not a major gene implicated in the cause of Tourette syndrome, can help contribute to understanding of Tourette's.
A subsequent examination of the region of the SLITRK1 gene found the mutation in none of 82 patients with Tourette syndrome. The authors concluded that tests to detect variant(s) in the gene probably would have little diagnostic utility.
The SLITRK1 gene has also been implicated in a small percentage of cases of trichotillomania
Trichotillomania
Trichotillomania, which is classified as an impulse control disorder by DSM-IV, is the compulsive urge to pull out one's own hair leading to noticeable hair loss, distress, and social or functional impairment. It is often chronic and difficult to treat....
, an impulse disorder where the patients compulsively pull their own hair.
External links
- A summary of the news and medical articles about the SLITRK1 genetic finding in Tourette's syndrome.
- Tourette's and SLITRK1