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

Overview

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.

Full Title of Study: “Genetic Modifiers of 22q11.2 Deletion Syndrome”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: July 2025

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.

Participating in This Clinical Trial

Inclusion Criteria

  • Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria

  • Has 22q11 deletion smaller than 3 Mb or no deletion

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Albert Einstein College of Medicine
  • Collaborator
    • National Heart, Lung, and Blood Institute (NHLBI)
  • Provider of Information About this Clinical Study
    • Principal Investigator: Bernice Morrow, Professor of Genetics – Albert Einstein College of Medicine
  • Overall Official(s)
    • Bernice E. Morrow, PhD, Principal Investigator, Albert Einstein College of Medicine, New York
  • Overall Contact(s)
    • Bernice E. Morrow, PhD, 718-678-1121, morrow@aecom.yu.edu

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