ID

45668

Description

Principal Investigator: Joseph G. Gleeson, MD, The Rockefeller University, Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, USA MeSH: Cerebellar hypoplasia,Lissencephaly,Microcephaly,Agenesis of corpus callosum,Pontocerebellar hypoplasia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001267 The purpose of this study is to identify new genetic causes of recessive forms of pediatric neurodevelopmental disorders (NDDs) including Cerebellar hypoplasia (CBH), Lissencephaly (LIS), Microcephaly (MIC), Corpus callosum hypoplasia (CCH), Pontocerebellar hypoplasia (PCH), Pontine tegemental cap dysplasia (PTCD), and Aicardi syndrome among many others. Using whole exome sequencing on one or two affected members per family, we are able to identify many pathogenic genes for these families. Using Human SNP Linkage Scans, which takes advantage of the Illumina HumanCore Array, and parametric linkage analysis software (Genehunter, Allegro, and others), we seek to identify pathogenic loci utilizing 60-70 families per year. Through the combination of parametric linkage analysis with exome sequencing and bioinformatics approaches, we will refine our search for superior sensitivity and accuracy when investigating candidate genes and identifying causative mutations for disease.

Link

dbGaP study = phs=001267

Keywords

Versions (1)
  1. 4/2/23 4/2/23 - Simon Heim
Copyright Holder

Joseph G. Gleeson, MD, The Rockefeller University, Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, USA

Uploaded on

April 2, 2023

DOI

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License

Creative Commons BY 4.0
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dbGaP phs001267 CIDR/NICHD Genetic Basis of Recessive Pediatric Brain Diseases - Group 2

English

Eligibility Criteria

6 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious that falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.
Description

The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious that falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C4022738
UMLS CUI [1,4]
C0439660
UMLS CUI [1,5]
C1385132
UMLS CUI [1,6]
C0431399
UMLS CUI [1,7]
C2034534
UMLS CUI [1,8]
C5142998
UMLS CUI [1,9]
C0086282
UMLS CUI [1,10]
C0522476
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C1706256
UMLS CUI [2,3]
C1518422
UMLS CUI [2,4]
C0019247
UMLS CUI [2,5]
C2828394
UMLS CUI [2,6]
C0178795
UMLS CUI [2,7]
C1457869
UMLS CUI [2,8]
C0014412
UMLS CUI [2,9]
C4022738
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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
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious that falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.
Item
The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious that falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C4022738 (UMLS CUI [1,3])
C0439660 (UMLS CUI [1,4])
C1385132 (UMLS CUI [1,5])
C0431399 (UMLS CUI [1,6])
C2034534 (UMLS CUI [1,7])
C5142998 (UMLS CUI [1,8])
C0086282 (UMLS CUI [1,9])
C0522476 (UMLS CUI [1,10])
C0680251 (UMLS CUI [2,1])
C1706256 (UMLS CUI [2,2])
C1518422 (UMLS CUI [2,3])
C0019247 (UMLS CUI [2,4])
C2828394 (UMLS CUI [2,5])
C0178795 (UMLS CUI [2,6])
C1457869 (UMLS CUI [2,7])
C0014412 (UMLS CUI [2,8])
C4022738 (UMLS CUI [2,9])
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