Alternative name(s) : Tourette syndrome\;TS, Tourette disorder, Chronic motor tics,included
Gene_locus : human-DPP6
Mutation : 1 mutation 135kbDel_human-DPP6
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
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 |