ID

45307

Description

Principal Investigator: Hanna Gazda, Children's Hospital Boston, Boston, MA, USA MeSH: Anemia, Dyserythropoietic, Congenital,Anemia, Diamond-Blackfan https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000474 In this study we have performed exome sequencing using the hybrid capture method that has previously been described (Gnirke et al., Nature Biotechnology, 2009) on genomic DNA samples from patients with the congenital bone marrow failure syndrome that affects the erythroid lineage, specifically, Diamond-Blackfan anemia. This disease is characterized by a hypoplastic anemia and approximately 50% of cases are attributable to mutations in ribosomal protein gene subunits. The other 50% of cases do not have a known genetic etiology and the purpose of this study is to attempt to delineate such causes.

Link

dbGaP study = phs000474

Keywords

Versions (1)
  1. 10/19/22 10/19/22 - Adrian Schulz
Copyright Holder

Hanna Gazda, Children's Hospital Boston, Boston, MA, USA

Uploaded on

October 19, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000474 Biology and Molecular Analysis of Human Hematopoiesis Genetics

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
We have selected probands with Diamond-Blackfan anemia diagnosed based upon clinical and laboratory criteria and have excluded patients with known genetic mutations. Details of this cohort that was used in this study have been described in prior publications (Gazda et al., Am J Hum Genet, 2008). The third version of the study includes data for 217 additional subjects that have been used as a replication study.
Description

Elig.phs000474.v3.p2.1

Data type

boolean

Alias
UMLS CUI [1,1]
C3846158
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Similar models

Eligibility Criteria

5 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])
Elig.phs000474.v3.p2.1
Item
We have selected probands with Diamond-Blackfan anemia diagnosed based upon clinical and laboratory criteria and have excluded patients with known genetic mutations. Details of this cohort that was used in this study have been described in prior publications (Gazda et al., Am J Hum Genet, 2008). The third version of the study includes data for 217 additional subjects that have been used as a replication study.
boolean
C3846158 (UMLS CUI [1,1])
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