ID

45196

Description

Principal Investigator: Jeremiah M. Scharf, MD, PhD, Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA MeSH: Tourette Syndrome,Tics https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000415 This study consists of 771 individuals from 15 extended, multi-generational Tourette Syndrome (TS) pedigrees collected by the Tourette Syndrome Association International Consortium for Genetics (TSAICG), 213 of whom are affected either with TS or its broader, genetically related phenotype, chronic tic disorder (CT). Prior microsatellite linkage analysis, including 624 individuals from these families, has identified a genome-wide significant TS/CT susceptibility locus on chromosome 2p21-24 with two additional loci meeting criteria for suggestive linkage on chromosomes 6p12-21 and 17p11-q11. Subsequent joint linkage and association analysis, incorporating genome-wide SNP genotyping on the Illumina Hap610 platform from 221 individuals, has strengthened the evidence for a major TS/CT locus on chromosome 2p but did not refine the locus further. In addition, haplotype analyses suggest that multiple TS/CT loci may exist on the short arm of chromosome 2. The goal of the current sequencing study is to use exon-focused sequencing, supplemented with targeted sequencing of additional known functional elements on chromosome 2p, to identify susceptibility variants contributing to the highly penetrant TS/CT phenotype in these families.

Link

dbGaP study = phs000415

Keywords

Versions (2)
  1. 2022-08-19 2022-08-19 - Chiara Middel
  2. 2022-10-12 2022-10-12 - Adrian Schulz
Copyright Holder

Jeremiah M. Scharf, MD, PhD, Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

Uploaded on

12 oktober 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000415 Whole Exome and Targeted Sequencing in Tourette Syndrome Multiplex Families

English

Eligibility Criteria

6 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Each pedigree was selected based on the presence of multiple affected individuals either with TS or CT across at least two generations. Both affected individuals and unaffected relatives were recruited and assessed for the presence of TS and CT using a standardized, semi-structured interview, which has high clinical validity and reliability for the diagnosis of TS (κ=1.0) (TSAICG, Am J Hum Genet, 2007).
Description

Elig.phs000415.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0030761
UMLS CUI [1,3]
C0439064
UMLS CUI [1,4]
C0079411
UMLS CUI [1,5]
C4316741
UMLS CUI [1,6]
C0040517
UMLS CUI [1,7]
C0008701
UMLS CUI [2,1]
C0086282
UMLS CUI [2,2]
C1516048
UMLS CUI [2,3]
C0040517
UMLS CUI [2,4]
C0008701
UMLS CUI [2,5]
C1255664
UMLS CUI [2,6]
C0681913
For the current sequencing study, pedigrees with the strongest evidence for linkage on chromosome 2 were prioritized. Within pedigrees, individuals were chosen for sequencing based on the following criteria: *a)* affected individuals as distantly related as possible with the common haplotype(s) segregating in that pedigree; *b)* individuals with key recombination events. For branches of chromosome 2-linked families, where the chromosome 2 risk haplotype was not transmitted to an affected offspring, complete trios were selected with the goal of identifying TS causal variants elsewhere in the exome.
Description

Elig.phs000415.v1.p1.2

Data type

boolean

Alias
UMLS CUI [1,1]
C0549179
UMLS CUI [1,2]
C0030761
UMLS CUI [1,3]
C3887511
UMLS CUI [1,4]
C0023745
UMLS CUI [1,5]
C3824730
UMLS CUI [2,1]
C1561491
UMLS CUI [2,2]
C0243161
UMLS CUI [2,3]
C0443203
UMLS CUI [2,4]
C0445223
UMLS CUI [2,5]
C0205214
UMLS CUI [2,6]
C0018591
UMLS CUI [3,1]
C1561491
UMLS CUI [3,2]
C0243161
UMLS CUI [3,3]
C0034865
UMLS CUI [4,1]
C0023745
UMLS CUI [4,2]
C3824730
UMLS CUI [4,3]
C0522477
UMLS CUI [4,4]
C0150323
UMLS CUI [4,5]
C0205419
UMLS CUI [4,6]
C0040517
For the large pedigrees with little-or-no evidence for linkage on chromosome 2, complete trios with an affected parent were selected, as well as multi-generational lineages with a chain of affected individuals.
Description

Elig.phs000415.v1.p1.3

Data type

boolean

Alias
UMLS CUI [1,1]
C0549177
UMLS CUI [1,2]
C0030761
UMLS CUI [1,3]
C0332125
UMLS CUI [1,4]
C0023745
UMLS CUI [1,5]
C3824730
UMLS CUI [2,1]
C0205449
UMLS CUI [2,2]
C0030705
UMLS CUI [2,3]
C0522476
UMLS CUI [2,4]
C0030551
UMLS CUI [3,1]
C0439064
UMLS CUI [3,2]
C0079411
UMLS CUI [3,3]
C1881379
UMLS CUI [3,4]
C0522476
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Similar models

Eligibility Criteria

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
Elig.phs000415.v1.p1.1
Item
Each pedigree was selected based on the presence of multiple affected individuals either with TS or CT across at least two generations. Both affected individuals and unaffected relatives were recruited and assessed for the presence of TS and CT using a standardized, semi-structured interview, which has high clinical validity and reliability for the diagnosis of TS (κ=1.0) (TSAICG, Am J Hum Genet, 2007).
boolean
C1512693 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
C0439064 (UMLS CUI [1,3])
C0079411 (UMLS CUI [1,4])
C4316741 (UMLS CUI [1,5])
C0040517 (UMLS CUI [1,6])
C0008701 (UMLS CUI [1,7])
C0086282 (UMLS CUI [2,1])
C1516048 (UMLS CUI [2,2])
C0040517 (UMLS CUI [2,3])
C0008701 (UMLS CUI [2,4])
C1255664 (UMLS CUI [2,5])
C0681913 (UMLS CUI [2,6])
Elig.phs000415.v1.p1.2
Item
For the current sequencing study, pedigrees with the strongest evidence for linkage on chromosome 2 were prioritized. Within pedigrees, individuals were chosen for sequencing based on the following criteria: *a)* affected individuals as distantly related as possible with the common haplotype(s) segregating in that pedigree; *b)* individuals with key recombination events. For branches of chromosome 2-linked families, where the chromosome 2 risk haplotype was not transmitted to an affected offspring, complete trios were selected with the goal of identifying TS causal variants elsewhere in the exome.
boolean
C0549179 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
C3887511 (UMLS CUI [1,3])
C0023745 (UMLS CUI [1,4])
C3824730 (UMLS CUI [1,5])
C1561491 (UMLS CUI [2,1])
C0243161 (UMLS CUI [2,2])
C0443203 (UMLS CUI [2,3])
C0445223 (UMLS CUI [2,4])
C0205214 (UMLS CUI [2,5])
C0018591 (UMLS CUI [2,6])
C1561491 (UMLS CUI [3,1])
C0243161 (UMLS CUI [3,2])
C0034865 (UMLS CUI [3,3])
C0023745 (UMLS CUI [4,1])
C3824730 (UMLS CUI [4,2])
C0522477 (UMLS CUI [4,3])
C0150323 (UMLS CUI [4,4])
C0205419 (UMLS CUI [4,5])
C0040517 (UMLS CUI [4,6])
Elig.phs000415.v1.p1.3
Item
For the large pedigrees with little-or-no evidence for linkage on chromosome 2, complete trios with an affected parent were selected, as well as multi-generational lineages with a chain of affected individuals.
boolean
C0549177 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
C0332125 (UMLS CUI [1,3])
C0023745 (UMLS CUI [1,4])
C3824730 (UMLS CUI [1,5])
C0205449 (UMLS CUI [2,1])
C0030705 (UMLS CUI [2,2])
C0522476 (UMLS CUI [2,3])
C0030551 (UMLS CUI [2,4])
C0439064 (UMLS CUI [3,1])
C0079411 (UMLS CUI [3,2])
C1881379 (UMLS CUI [3,3])
C0522476 (UMLS CUI [3,4])
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