A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder

✍ Scribed by Willem Verhoeven; Jos Egger; Han Brunner; Nicole de Leeuw

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 455 KB
• Volume: 155
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.33802

✦ Synopsis

Abstract

We report on a young female with normal intelligence evaluated for long‐term anxiety. Her history includes prematurity, neonatal feeding problems, surgical correction of congenital heart defects, recurrent upper airway and urinary tract infections, and delayed motor and developmental milestones. Physical examination disclosed small stature and minor dysmorphisms. Chromosome analysis, 22q11.2 FISH analysis, and subtelomeric MLPA testing did not detect any abnormalities. Genome wide SNP Array analysis showed a de novo deletion in 22q11.21q11.22, the so‐called distal 22q11 microdeletion that involves the MAPK1 gene. A diagnosis of panic disorder was made and the patient was successfully treated with a daily dose of 20 mg citalopram. To our knowledge, this is the first adolescent patient with a long history of complaints about anxiety and a distal 22q11 microdeletion. We speculate that genes from the deleted region, especially MAPK1, increase the neurobiological susceptibility to anxiety disorders that may be a part of the psychopathological phenotype of the distal 22q11.2 microdeletion syndrome. © 2010 Wiley‐Liss, Inc.