DPP6 gene disruption in a family with Gilles de la Tourette syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-08-17

AUTHORS

Paolo Prontera, Valerio Napolioni, Valentina Ottaviani, Daniela Rogaia, Carmela Fusco, Bartolomeo Augello, Domenico Serino, Valentina Parisi, Laura Bernardini, Giuseppe Merla, Andrea E. Cavanna, Emilio Donti

ABSTRACT

Gilles de la Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics, frequently associated with psychiatric co-morbidities. Despite the significant level of heritability, the genetic architecture of TS still remains elusive. Herein, we investigated an Italian family where an 8-year-old boy, his father, and paternal uncle have a diagnosis of TS. Array-CGH and high resolution SNP-array analyses revealed a heterozygous microdeletion of ∼135 kb at the 7q36.2 locus in the proband and his father. Fluorescent in situ hybridization and quantitative PCR (qPCR) analyses confirmed the presence of the alteration also in the paternal uncle. The deletion selectively involves the first exon of the DPP6 gene, leading to a down-regulation of its expression, as demonstrated by the reduced messenger RNA (mRNA) levels assessed by RT-qPCR. The DPP6 gene encodes for a type II membrane glycoprotein expressed predominantly in the central nervous system. To date, a de novo DPP6 exonic duplication, of uncertain significance, was reported in one patient with TS. Moreover, the DPP6 gene has been implicated in the pathogenesis of autism spectrum disorder (ASD) and, notably, in haloperidol-induced dyskinesia. This first familial case provides evidence for association between DPP6 haploinsufficiency and TS, further suggesting a plausible molecular link between TS and ASD, and might shed some light on the efficacy and tolerability profiles of antidopaminergic agents used for tic management, thus prompting further studies on a larger cohort of patients. More... »

PAGES

237-242

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10048-014-0418-9

DOI

http://dx.doi.org/10.1007/s10048-014-0418-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1036409995

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25129042


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28 schema:description Gilles de la Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics, frequently associated with psychiatric co-morbidities. Despite the significant level of heritability, the genetic architecture of TS still remains elusive. Herein, we investigated an Italian family where an 8-year-old boy, his father, and paternal uncle have a diagnosis of TS. Array-CGH and high resolution SNP-array analyses revealed a heterozygous microdeletion of ∼135 kb at the 7q36.2 locus in the proband and his father. Fluorescent in situ hybridization and quantitative PCR (qPCR) analyses confirmed the presence of the alteration also in the paternal uncle. The deletion selectively involves the first exon of the DPP6 gene, leading to a down-regulation of its expression, as demonstrated by the reduced messenger RNA (mRNA) levels assessed by RT-qPCR. The DPP6 gene encodes for a type II membrane glycoprotein expressed predominantly in the central nervous system. To date, a de novo DPP6 exonic duplication, of uncertain significance, was reported in one patient with TS. Moreover, the DPP6 gene has been implicated in the pathogenesis of autism spectrum disorder (ASD) and, notably, in haloperidol-induced dyskinesia. This first familial case provides evidence for association between DPP6 haploinsufficiency and TS, further suggesting a plausible molecular link between TS and ASD, and might shed some light on the efficacy and tolerability profiles of antidopaminergic agents used for tic management, thus prompting further studies on a larger cohort of patients.
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35 schema:keywords DPP6 exonic duplication
36 DPP6 gene
37 DPP6 gene disruption
38 DPP6 haploinsufficiency
39 Further studies
40 Gilles de
41 Herein
42 II membrane glycoprotein
43 Italian family
44 PCR analysis
45 RNA levels
46 RT-qPCR
47 SNP array analysis
48 TiC
49 Tourette syndrome
50 agents
51 alterations
52 analysis
53 antidopaminergic agents
54 architecture
55 array CGH
56 association
57 autism spectrum disorder
58 boys
59 cases
60 central nervous system
61 cohort
62 date
63 de
64 deletion
65 diagnosis
66 diagnosis of TS
67 disorders
68 disruption
69 duplication
70 dyskinesia
71 efficacy
72 evidence
73 exonic duplications
74 exons
75 expression
76 familial cases
77 family
78 fathers
79 first exon
80 first familial case
81 fluorescent
82 gene disruption
83 genes
84 genetic architecture
85 glycoprotein
86 haloperidol-induced dyskinesias
87 haploinsufficiency
88 heritability
89 heterozygous microdeletion
90 high-resolution SNP array analysis
91 hybridization
92 kb
93 large cohort
94 levels
95 light
96 link
97 loci
98 management
99 membrane glycoproteins
100 messenger RNA levels
101 microdeletion
102 molecular link
103 motor
104 multiple motors
105 nervous system
106 neurodevelopmental disorders
107 novo DPP6 exonic duplication
108 paternal uncle
109 pathogenesis
110 patients
111 plausible molecular link
112 presence
113 probands
114 profile
115 quantitative PCR analysis
116 resolution SNP-array analyses
117 significance
118 significant levels
119 situ hybridization
120 spectrum disorder
121 study
122 syndrome
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124 tic management
125 tolerability profile
126 type II membrane glycoprotein
127 uncertain significance
128 uncle
129 vocal tics
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