title: A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder.
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.
authors.affiliation: Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands. wverhoeven@vvgi.nl
authors.forename: Willem
authors.initials: W
authors.lastname: Verhoeven
authors.forename: Jos
authors.initials: J
authors.lastname: Egger
authors.forename: Han
authors.initials: H
authors.lastname: Brunner
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D019950:Mitogen-Activated Protein Kinase 1 / Q000235:genetics; D016584:Panic Disorder / Q000235:genetics*
chemical_list: C535150:MAPK1 protein, human; D019950:Mitogen-Activated Protein Kinase 1