Gilles de la Tourette syndrome (GTS)

Alternative name(s) : Tourette syndrome\;TS, Tourette disorder, Chronic motor tics,included

Gene_locus : human-DPP6

Mutation : 1 mutation 135kbDel_human-DPP6

OMIM : 137580 , 126141

Comment
( From OMIM) Evidence suggests that mutations in more than one gene can cause Gilles de la Tourette syndrome. Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Prontera et al. showed a heterozygous microdeletion of 135 kb at the 7q36.2 locus in an 8-year-old boy and his father

References (1)

Title : DPP6 gene disruption in a family with Gilles de la Tourette syndrome - Prontera_2014_Neurogenetics_15_237
Author(s) : Prontera P , Napolioni V , Ottaviani V , Rogaia D , Fusco C , Augello B , Serino D , Parisi V , Bernardini L , Merla G , Cavanna AE , Donti E
Ref : Neurogenetics , 15 :237 , 2014
Abstract : Prontera_2014_Neurogenetics_15_237
ESTHER : Prontera_2014_Neurogenetics_15_237
PubMedSearch : Prontera_2014_Neurogenetics_15_237
PubMedID: 25129042
Gene_locus related to this paper: human-DPP6