Whole Genome Sequencing of Two Family Trios with 22q.11.2 Deletion Syndrome

Two subjects with 22q11.2 deletion syndromes (22q11DS) and their parents were recruited for a whole genome sequencing study to identify candidate genetic modifiers of the various phenotypes seen in 22q11DS. Both probands had a typical 3 megabase deletion on chromosome 22q11.2 but discordant phenotypes.

• Study Design:
  • Family/Twin/Trios
• Study Type:
  • Parent-Offspring Trios
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 6
• Subject Sample Telemetry Report (SSTR)

• BioProject
• Sequence Read Archive
• BioSample
• MeSH

Inclusion criteria: Probands diagnosed with 22q11.2 deletion syndrome and has 3 megabase deletion on chromosome 22q11.2 confirmed by fluorescence in situ hybridization. Both parents are available for DNA collection and are unaffected.

Exclusion criteria: Probands with alternate or atypical 22q11.2 deletions. Parents unavailable for sequencing.

• Primary Phenotype: Tetralogy of Fallot
• Psychotic Disorders
• Schizophrenia
• Arthritis, Juvenile

• Principal Investigator
  • Bernice Morrow, PhD. Albert Einstein College of Medicine, Bronx, NY, USA.
• Co-Investigators
  • Jonathan H. Chung, MS. Albert Einstein College of Medicine, Bronx, NY, USA.
  • Jinlu Cai, PhD. Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Barrie G. Suskin, MD. Montefiore Medican Center, Bronx, NY, USA.
  • Zhengdong Zhang, PhD. Albert Einstein College of Medicine, Bronx, NY, USA.
  • Karlene Coleman. Children's Healthcare of Atlanta at Egleston, Atlanta, GA, USA.
• Funding Sources
  • Albert Einstein College of Medicine, Bronx, NY, USA.