How to Cite this Article: López-Arvizu C, Sparrow EP, Strube MJ, Slavin C, DeOleo C, James J, Hoover-Fong J, McIntosh I, Tierney E. 2011. Increased Symptoms of Attention Deficit Hyperactivity Disorder and Major Depressive Disorder Symptoms in Nail-Patella Syndrome: Potential Association With LMX1B Loss-of-Function. Am J Med Genet Part B 156:59–66.
Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in nail-patella syndrome: Potential association with LMX1B loss-of-function†
Article first published online: 2 NOV 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 156, Issue 1, pages 59–66, January 2011
How to Cite
López-Arvizu, C., Sparrow, E. P., Strube, M. J., Slavin, C., DeOleo, C., James, J., Hoover-Fong, J., McIntosh, I. and Tierney, E. (2011), Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in nail-patella syndrome: Potential association with LMX1B loss-of-function. Am. J. Med. Genet., 156: 59–66. doi: 10.1002/ajmg.b.31138
- Issue published online: 23 DEC 2010
- Article first published online: 2 NOV 2010
- Manuscript Accepted: 29 SEP 2010
- Manuscript Received: 16 AUG 2010
- NIAMS. Grant Number: AR44702
- Alan and Kathryn Greenberg Center for Skeletal Dysplasias in the McKusick- Nathans Institute of Genetic Medicine
- Kennedy Krieger Institute Center for Disorders of Cognition and Behavior
- National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH) and NIH Roadmap for Medical. Grant Number: UL1 RR 025005
- behavior phenotype;
Nail-Patella syndrome (NPS) is an autosomal dominant disorder that is the result of heterozygous loss-of-function mutations in LMX1B, coding for a LIM homeobox (LIM-HD) transcription factor. Analyses of lmx1b mutant mice have revealed the role of Lmx1b in the development of mesencephalic dopaminergic neurons and the serotonergic system; these areas have been linked with symptoms of attention deficit hyperactivity disorder (ADHD) and major depressive disorder (MDD). Fifty adults (38 females, 12 males) with NPS completed the Conners' Adult ADHD Rating Scales—Self-report: Long Version (CAARS) and Beck Depression Inventory-II (BDI-II). The objective was to describe the neurobehavioral phenotype of these subjects and examine possible relationships between neurobehavioral symptoms and NPS. Elevated levels of DSM-IV-TR ADHD Inattentive symptoms were reported on the CAARS by 22% of the NPS sample. The BDI-II Total score was elevated for 40% of the NPS sample. There was a significant increase in the odds of an elevated BDI-II Total score when any of the three CAARS scales were elevated (odds ratios ranging from 11.455 to 15.615). The CAARS and BDI-II did not significantly differ with gender, age, or education level. There was no significant association between genetic mutation-predicted protein status and elevations on CAARS or BDI-II. Individuals with NPS reported co-occurring symptoms of ADHD and MDD, with higher levels of co-occurrence than reported in the literature for the general population. The co-occurrence of these symptoms may be related to mesencephalic dopaminergic neurologic pathway abnormalities that are a consequence of LMX1B loss of function. © 2010 Wiley-Liss, Inc.