DPP6 gene disruption in a family with Gilles de la Tourette syndrome
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 investi...
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| Autor*in: |
Prontera, Paolo [verfasserIn] Napolioni, Valerio [verfasserIn] Ottaviani, Valentina [verfasserIn] Rogaia, Daniela [verfasserIn] Fusco, Carmela [verfasserIn] Augello, Bartolomeo [verfasserIn] Serino, Domenico [verfasserIn] Parisi, Valentina [verfasserIn] Bernardini, Laura [verfasserIn] Merla, Giuseppe [verfasserIn] Cavanna, Andrea E. [verfasserIn] Donti, Emilio [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2014 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer-Verlag, 2001, 15(2014), 4 vom: 17. Aug., Seite 237-242 |
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| Übergeordnetes Werk: |
volume:15 ; year:2014 ; number:4 ; day:17 ; month:08 ; pages:237-242 |
| Links: |
|---|
| DOI / URN: |
10.1007/s10048-014-0418-9 |
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SPR008233861 |
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| 520 | |a 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. | ||
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10.1007/s10048-014-0418-9 doi (DE-627)SPR008233861 (SPR)s10048-014-0418-9-e DE-627 ger DE-627 rakwb eng Prontera, Paolo verfasserin aut DPP6 gene disruption in a family with Gilles de la Tourette syndrome 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Tourette syndrome (dpeaa)DE-He213 DPP6 gene (dpeaa)DE-He213 7q microdeletion (dpeaa)DE-He213 Haloperidol (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Attention-deficit and hyperactivity disorder (dpeaa)DE-He213 Napolioni, Valerio verfasserin aut Ottaviani, Valentina verfasserin aut Rogaia, Daniela verfasserin aut Fusco, Carmela verfasserin aut Augello, Bartolomeo verfasserin aut Serino, Domenico verfasserin aut Parisi, Valentina verfasserin aut Bernardini, Laura verfasserin aut Merla, Giuseppe verfasserin aut Cavanna, Andrea E. verfasserin aut Donti, Emilio verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 15(2014), 4 vom: 17. Aug., Seite 237-242 (DE-627)SPR00822823X nnns volume:15 year:2014 number:4 day:17 month:08 pages:237-242 https://dx.doi.org/10.1007/s10048-014-0418-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 15 2014 4 17 08 237-242 |
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10.1007/s10048-014-0418-9 doi (DE-627)SPR008233861 (SPR)s10048-014-0418-9-e DE-627 ger DE-627 rakwb eng Prontera, Paolo verfasserin aut DPP6 gene disruption in a family with Gilles de la Tourette syndrome 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Tourette syndrome (dpeaa)DE-He213 DPP6 gene (dpeaa)DE-He213 7q microdeletion (dpeaa)DE-He213 Haloperidol (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Attention-deficit and hyperactivity disorder (dpeaa)DE-He213 Napolioni, Valerio verfasserin aut Ottaviani, Valentina verfasserin aut Rogaia, Daniela verfasserin aut Fusco, Carmela verfasserin aut Augello, Bartolomeo verfasserin aut Serino, Domenico verfasserin aut Parisi, Valentina verfasserin aut Bernardini, Laura verfasserin aut Merla, Giuseppe verfasserin aut Cavanna, Andrea E. verfasserin aut Donti, Emilio verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 15(2014), 4 vom: 17. Aug., Seite 237-242 (DE-627)SPR00822823X nnns volume:15 year:2014 number:4 day:17 month:08 pages:237-242 https://dx.doi.org/10.1007/s10048-014-0418-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 15 2014 4 17 08 237-242 |
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10.1007/s10048-014-0418-9 doi (DE-627)SPR008233861 (SPR)s10048-014-0418-9-e DE-627 ger DE-627 rakwb eng Prontera, Paolo verfasserin aut DPP6 gene disruption in a family with Gilles de la Tourette syndrome 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Tourette syndrome (dpeaa)DE-He213 DPP6 gene (dpeaa)DE-He213 7q microdeletion (dpeaa)DE-He213 Haloperidol (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Attention-deficit and hyperactivity disorder (dpeaa)DE-He213 Napolioni, Valerio verfasserin aut Ottaviani, Valentina verfasserin aut Rogaia, Daniela verfasserin aut Fusco, Carmela verfasserin aut Augello, Bartolomeo verfasserin aut Serino, Domenico verfasserin aut Parisi, Valentina verfasserin aut Bernardini, Laura verfasserin aut Merla, Giuseppe verfasserin aut Cavanna, Andrea E. verfasserin aut Donti, Emilio verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 15(2014), 4 vom: 17. Aug., Seite 237-242 (DE-627)SPR00822823X nnns volume:15 year:2014 number:4 day:17 month:08 pages:237-242 https://dx.doi.org/10.1007/s10048-014-0418-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 15 2014 4 17 08 237-242 |
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10.1007/s10048-014-0418-9 doi (DE-627)SPR008233861 (SPR)s10048-014-0418-9-e DE-627 ger DE-627 rakwb eng Prontera, Paolo verfasserin aut DPP6 gene disruption in a family with Gilles de la Tourette syndrome 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Tourette syndrome (dpeaa)DE-He213 DPP6 gene (dpeaa)DE-He213 7q microdeletion (dpeaa)DE-He213 Haloperidol (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Attention-deficit and hyperactivity disorder (dpeaa)DE-He213 Napolioni, Valerio verfasserin aut Ottaviani, Valentina verfasserin aut Rogaia, Daniela verfasserin aut Fusco, Carmela verfasserin aut Augello, Bartolomeo verfasserin aut Serino, Domenico verfasserin aut Parisi, Valentina verfasserin aut Bernardini, Laura verfasserin aut Merla, Giuseppe verfasserin aut Cavanna, Andrea E. verfasserin aut Donti, Emilio verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 15(2014), 4 vom: 17. Aug., Seite 237-242 (DE-627)SPR00822823X nnns volume:15 year:2014 number:4 day:17 month:08 pages:237-242 https://dx.doi.org/10.1007/s10048-014-0418-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 15 2014 4 17 08 237-242 |
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10.1007/s10048-014-0418-9 doi (DE-627)SPR008233861 (SPR)s10048-014-0418-9-e DE-627 ger DE-627 rakwb eng Prontera, Paolo verfasserin aut DPP6 gene disruption in a family with Gilles de la Tourette syndrome 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Tourette syndrome (dpeaa)DE-He213 DPP6 gene (dpeaa)DE-He213 7q microdeletion (dpeaa)DE-He213 Haloperidol (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Attention-deficit and hyperactivity disorder (dpeaa)DE-He213 Napolioni, Valerio verfasserin aut Ottaviani, Valentina verfasserin aut Rogaia, Daniela verfasserin aut Fusco, Carmela verfasserin aut Augello, Bartolomeo verfasserin aut Serino, Domenico verfasserin aut Parisi, Valentina verfasserin aut Bernardini, Laura verfasserin aut Merla, Giuseppe verfasserin aut Cavanna, Andrea E. verfasserin aut Donti, Emilio verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 15(2014), 4 vom: 17. Aug., Seite 237-242 (DE-627)SPR00822823X nnns volume:15 year:2014 number:4 day:17 month:08 pages:237-242 https://dx.doi.org/10.1007/s10048-014-0418-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 15 2014 4 17 08 237-242 |
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Enthalten in Neurogenetics 15(2014), 4 vom: 17. Aug., Seite 237-242 volume:15 year:2014 number:4 day:17 month:08 pages:237-242 |
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Prontera, Paolo @@aut@@ Napolioni, Valerio @@aut@@ Ottaviani, Valentina @@aut@@ Rogaia, Daniela @@aut@@ Fusco, Carmela @@aut@@ Augello, Bartolomeo @@aut@@ Serino, Domenico @@aut@@ Parisi, Valentina @@aut@@ Bernardini, Laura @@aut@@ Merla, Giuseppe @@aut@@ Cavanna, Andrea E. @@aut@@ Donti, Emilio @@aut@@ |
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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. 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DPP6 gene disruption in a family with Gilles de la Tourette syndrome Tourette syndrome (dpeaa)DE-He213 DPP6 gene (dpeaa)DE-He213 7q microdeletion (dpeaa)DE-He213 Haloperidol (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Attention-deficit and hyperactivity disorder (dpeaa)DE-He213 |
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Prontera, Paolo Napolioni, Valerio Ottaviani, Valentina Rogaia, Daniela Fusco, Carmela Augello, Bartolomeo Serino, Domenico Parisi, Valentina Bernardini, Laura Merla, Giuseppe Cavanna, Andrea E. Donti, Emilio |
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dpp6 gene disruption in a family with gilles de la tourette syndrome |
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DPP6 gene disruption in a family with Gilles de la Tourette syndrome |
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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. |
| abstractGer |
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. |
| abstract_unstemmed |
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. |
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Napolioni, Valerio Ottaviani, Valentina Rogaia, Daniela Fusco, Carmela Augello, Bartolomeo Serino, Domenico Parisi, Valentina Bernardini, Laura Merla, Giuseppe Cavanna, Andrea E. Donti, Emilio |
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