Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

Brief Summary
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.
Brief Title
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Detailed Description
22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. Most people with this disorder are missing a sequence of about 3 million DNA building blocks on chromosome 22 within each cell. This disorder affects many areas of the body. People with 22q11.2 deletion syndrome may have heart defects, immune deficiency, kidney abnormalities, hearing loss, and cleft palate or other facial deformities. Many children experience developmental delays and learning disabilities, and they have an increased risk of developing mental illnesses, including schizophrenia, depression, anxiety, and bipolar disorder. All people with 22q11.2 deletion syndrome are missing the same sequence of DNA, but the severity of this disorder varies widely; some people are diagnosed with multiple health and developmental problems, while others experience very few symptoms. In some people, the symptoms may be so minimal that they are not even aware they have 22q11.2 deletion syndrome. This study will examine genetic material-either from blood or saliva-among people with 22q11.2 deletion syndrome. Participants will attend one study visit and undergo either blood or saliva collection. By analyzing the DNA sequences of participants, the study will aim to identify any genetic variations that may affect the severity of 22q11.2 deletion syndrome.
Central Contacts
Central Contact Role
Contact
Central Contact Phone
914-329-4653
Central Contact Email
bernice.morrow@einsteinmed.edu
Completion Date
Completion Date Type
Estimated
Conditions
DiGeorge Syndrome
22q11.2 Deletion Syndrome
Eligibility Criteria
Inclusion Criteria:

* Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria:

* Has 22q11 deletion smaller than 3 Mb or no deletion
Inclusion Criteria
Inclusion Criteria:

* Has 22q11 deletion of 3 megabases (Mb)

Gender
All
Gender Based
false
Keywords
Congenital Heart Defects
Single Nucleotide Polymorphisms
Copy Number Variations
Whole Genome Association Study
Healthy Volunteers
No
Last Update Submit Date
NCT Id
NCT00556530
Org Class
Other
Org Full Name
Albert Einstein College of Medicine
Org Study Id
1999-201
Overall Status
Recruiting
Primary Completion Date
Primary Completion Date Type
Estimated
Official Title
Genetic Modifiers of 22q11.2 Deletion Syndrome
Secondary Ids
Secondary Id
R01HL084410
Start Date
Status Verified Date
First Submit Date
First Submit QC Date
Study Population
People with 22q11.2 deletion syndrome
Std Ages
Child
Adult
Older Adult
Maximum Age Number (converted to Years and rounded down)
999
Minimum Age Number (converted to Years and rounded down)
0
Investigators
Investigator Type
Principal Investigator
Investigator Name
Bernice Morrow
Investigator Email
bernice.morrow@einsteinmed.org
Investigator Phone