A biologic model to study the genetics of psychotic, mood, and anxiety disorders: the velocardiofacial syndrome.
Recent advances in molecular genetics have led to new insights on the velocardiofacial syndrome (VCFS). Most patients have a large deletion on one copy of chromosome 22 (encompassing up to 30 genes), which can be confirmed with genetic testing. A wide spectrum of psychiatric symptoms has been reported in patients with VCFS, including schizophrenia and bipolar disorder. Preliminary studies of candidate genes from the deletion region suggest that allelic differences may increase susceptibility to psychiatric disorders, but these studies await replication. Mouse models with genetically engineered deletions have the potential to isolate the genes associated with VCFS neuropsychiatric symptoms. VCFS is likely to represent the deficiency of several genes with complex interactions. Further psychiatric research is warranted to delineate more comprehensively the neuro-psychiatric phenotype associated with VCFS. Accurate psychiatric diagnosis will better inform and advance ongoing genetic research.
Children's Hospital of Philadelphia, Department of Child and Adolescent Psychiatry, 3440 Market Street, Suite 200, Philadelphia, PA 19104, USA.
Edith M
EM
Jolin
Elizabeth B
EB
Weller
Ronald A
RA
Weller
D000483:Alleles; D000818:Animals; D001008:Anxiety Disorders / Q000235:genetics*; D002394:Catechol O-Methyltransferase / Q000235:genetics; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D004195:Disease Models, Animal; D005453:Fluorescence; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D051379:Mice; D019964:Mood Disorders / Q000235:genetics*; D011618:Psychotic Disorders / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D002394:Catechol O-Methyltransferase