{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:45:02Z","timestamp":1791121502028,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,11,2]],"date-time":"2010-11-02T00:00:00Z","timestamp":1288656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nail\u2010Patella syndrome (NPS) is an autosomal dominant disorder that is the result of heterozygous loss\u2010of\u2010function mutations in <jats:italic>LMX1B<\/jats:italic>, coding for a LIM homeobox (LIM\u2010HD) transcription factor. Analyses of <jats:italic>lmx1b<\/jats:italic> 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 <jats:italic>Conners' Adult ADHD Rating Scales\u2014Self\u2010report: Long Version<\/jats:italic> (<jats:italic>CAARS<\/jats:italic>) and <jats:italic>Beck Depression Inventory\u2010II<\/jats:italic> (<jats:italic>BDI\u2010II<\/jats:italic>). The objective was to describe the neurobehavioral phenotype of these subjects and examine possible relationships between neurobehavioral symptoms and NPS. Elevated levels of DSM\u2010IV\u2010TR ADHD Inattentive symptoms were reported on the <jats:italic>CAARS<\/jats:italic> by 22% of the NPS sample. The <jats:italic>BDI\u2010II Total<\/jats:italic> score was elevated for 40% of the NPS sample. There was a significant increase in the odds of an elevated <jats:italic>BDI\u2010II Total score<\/jats:italic> when any of the three <jats:italic>CAARS<\/jats:italic> scales were elevated (odds ratios ranging from 11.455 to 15.615). The <jats:italic>CAARS<\/jats:italic> and <jats:italic>BDI\u2010II<\/jats:italic> did not significantly differ with gender, age, or education level. There was no significant association between genetic mutation\u2010predicted protein status and elevations on <jats:italic>CAARS<\/jats:italic> or <jats:italic>BDI\u2010II<\/jats:italic>. Individuals with NPS reported co\u2010occurring symptoms of ADHD and MDD, with higher levels of co\u2010occurrence than reported in the literature for the general population. The co\u2010occurrence of these symptoms may be related to mesencephalic dopaminergic neurologic pathway abnormalities that are a consequence of <jats:italic>LMX1B<\/jats:italic> loss of function. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.31138","type":"journal-article","created":{"date-parts":[[2010,11,3]],"date-time":"2010-11-03T04:51:38Z","timestamp":1288759898000},"page":"59-66","source":"Crossref","is-referenced-by-count":20,"title":["Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in nail\u2010patella syndrome: Potential association with <i>LMX1B<\/i> loss\u2010of\u2010function"],"prefix":"10.1002","volume":"156","author":[{"given":"Carmen","family":"L\u00f3pez\u2010Arvizu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth P.","family":"Sparrow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J","family":"Strube","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Slavin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"DeOleo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"James","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Hoover\u2010Fong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iain","family":"McIntosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Tierney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,11,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2006.08.004"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890423349"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.901790311"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0028-3908(99)00010-6"},{"key":"e_1_2_6_6_1","volume-title":"The beck depression inventory","author":"Beck AT","year":"1996"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1846"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291705006410"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1176\/ajp.151.7.979"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3959(01)00457-2"},{"key":"e_1_2_6_11_1","first-page":"103","article-title":"Observation d'une luxation cong\u00e9niale du tibia en arri\u00e8re","volume":"75","author":"Chatelain A\u2010C","year":"1822","journal-title":"Biblioth\u00e8que M\u00e9dicale ou Recueil P\u00e9riodique D'Extraits des Meilleurs Ouvrages de M\u00e9dicine et de Chirurgie"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0598-51"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.23-31-09961.2003"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1586\/ern.09.78"},{"key":"e_1_2_6_15_1","volume-title":"Conner's Adult ADHD Rating Scales","author":"Conners CK","year":"1999"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pain.2008.06.017"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002590000330"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0598-47"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2004.06.002"},{"key":"e_1_2_6_20_1","unstructured":"Editor.1833. 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