Conflict of interest: The authors have no conflict of interest to declare.
Mood disorders in individuals with distal 18q deletions
Article first published online: 4 SEP 2013
© 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 162, Issue 8, pages 879–888, December 2013
How to Cite
2013. Mood disorders in individuals with distal 18q deletions. Am J Med Genet Part B 9999:879–888., , , , , , , , .
- Issue published online: 4 NOV 2013
- Article first published online: 4 SEP 2013
- Manuscript Accepted: 2 AUG 2013
- Manuscript Received: 31 MAY 2012
- Chromosome 18 Registry and Research Society
- MacDonald family
- CHRISTUS Santa Rosa Children's Hospital
- Institute for the Integration of Medicine and Science (CTSA). Grant Number: 8UL1TR000149
- bipolar disorder;
- Chromosome 18;
- mood disorders;
We examined 36 participants at least 4 years old with hemizygous distal deletions of the long arm of Chromosome 18 (18q-) for histories of mood disorders and to characterize these disorders clinically. Since each participant had a different region of 18q hemizygosity, our goal was also to identify their common region of hemizygosity associated with mood disorders; thereby identifying candidate causal genes in that region. Lifetime mood and other psychiatric disorders were determined by semi-structured interviews of patients and parents, supplemented by reviews of medical and psychiatric records, and norm-referenced psychological assessment instruments, for psychiatric symptoms, cognitive problems, and adaptive functioning. Sixteen participants were identified with lifetime mood disorders (ages 12–42 years, 71% female, 14 having had unipolar depression and 2 with bipolar disorders). From the group of 20 who did not meet criteria for a mood disorder; a comparison group of 6 participants were identified who were matched for age range and deletion size. Mood-disordered patients had high rates of anxiety (75%) and externalizing behavior disorders (44%), and significant mean differences from comparison patients (P < 0.05), including higher overall and verbal IQs and lower autistic symptoms. A critical region was defined in the mood-disordered group that included a hypothetical gene, C18orf62, and two known genes, ZADH2 and TSHZ1. We conclude that patients having terminal deletions of this critical region of the long arm of Chromosome 18 are highly likely to have mood disorders, which are often comorbid with anxiety and to a lesser extent with externalizing disorders. © 2013 Wiley Periodicals, Inc.