Abstract |
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.
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Authors | Carmen López-Arvizu, Elizabeth P Sparrow, Michael J Strube, Chris Slavin, Caroline DeOleo, Justin James, Julie Hoover-Fong, Iain McIntosh, Elaine Tierney |
Journal | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
(Am J Med Genet B Neuropsychiatr Genet)
Vol. 156B
Issue 1
Pg. 59-66
(Jan 2011)
ISSN: 1552-485X [Electronic] United States |
PMID | 21184584
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2010 Wiley-Liss, Inc. |
Chemical References |
- Homeodomain Proteins
- LIM homeobox transcription factor 1 beta
- LIM-Homeodomain Proteins
- Transcription Factors
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Topics |
- Adult
- Aged
- Animals
- Attention Deficit Disorder with Hyperactivity
(complications, genetics)
- DNA Mutational Analysis
- Demography
- Depressive Disorder, Major
(complications, genetics)
- Education
- Female
- Genetic Predisposition to Disease
- Homeodomain Proteins
(genetics)
- Humans
- LIM-Homeodomain Proteins
- Male
- Mice
- Middle Aged
- Nail-Patella Syndrome
(complications, genetics)
- Odds Ratio
- Self Report
- Transcription Factors
(genetics)
- Young Adult
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