Document Detail


A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder.
MedLine Citation:
PMID:  21271660     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Willem Verhoeven; Jos Egger; Han Brunner; Nicole de Leeuw
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-12-22
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  155A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-28     Completed Date:  2011-05-20     Revised Date:  2011-06-07    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  392-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Wiley-Liss, Inc.
Affiliation:
Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands. wverhoeven@vvgi.nl
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Chromosome Deletion
Chromosomes, Human, Pair 22 / genetics
Female
Genetic Predisposition to Disease / genetics*
Humans
In Situ Hybridization, Fluorescence
Mitogen-Activated Protein Kinase 1 / genetics
Panic Disorder / genetics*
Chemical
Reg. No./Substance:
EC 2.7.11.24/MAPK1 protein, human; EC 2.7.11.24/Mitogen-Activated Protein Kinase 1

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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