{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:34:57Z","timestamp":1790696097892,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"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 A"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Small interstitial deletions affecting chromosome region 3p25.3 have been reported in only five patients so far, four of them with overlapping telomeric microdeletions 3p25.3 and variable features of 3p\u2010 syndrome, and one patient with a small proximal microdeletion and a distinct phenotype with intellectual disability (ID) and multiple congenital anomalies. Here we report on three novel patients with overlapping proximal microdeletions 3p25.3 of 1.1\u20131.5\u2009Mb in size showing a consistent non\u20103p\u2010 phenotype with ID, epilepsy\/EEG abnormalities, poor speech, ataxia and stereotypic hand movements. The smallest region of overlap contains two genes encoding sodium\u2010 and chloride\u2010dependent GABA transporters which have not been associated with this disease phenotype in humans so far. The protein function, the phenotype in transporter deficient animal models and the effects of specific pharmacological transporter inhibition in mice and humans provide evidence that these GABA transporters are plausible candidates for seizures\/EEG abnormalities, ataxia and ID in this novel group of patients. A fourth novel patient deleted for a 3.16\u2009Mb region, both telomeric and centromeric to 3p25.3, confirms that the telomeric segment is critical for the 3p\u2010 syndrome phenotype. Finally, a region of 643\u2009kb is suggested to harbor one or more genes causative for polydactyly which is part of the 3p\u2010 syndrome. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36761","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T17:35:27Z","timestamp":1411580127000},"page":"3061-3068","source":"Crossref","is-referenced-by-count":43,"title":["3p25.3 microdeletion of GABA transporters <i>SLC6A1<\/i> and <i>SLC6A11<\/i> results in intellectual disability, epilepsy and stereotypic behavior"],"prefix":"10.1002","volume":"164","author":[{"given":"Nicola","family":"Dikow","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca","family":"Maas","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Karch","sequence":"additional","affiliation":[{"name":"Center for Child and Adolescent Medicine Pediatric Neurology Heidelberg University Hospital Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Granzow","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes W.G.","family":"Janssen","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Jauch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hinderhofer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Sutter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Schubert\u2010Bast","sequence":"additional","affiliation":[{"name":"Center for Child and Adolescent Medicine Pediatric Neurology Heidelberg University Hospital Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britt Marie","family":"Anderlid","sequence":"additional","affiliation":[{"name":"Institution of Molecular Medicine and Surgery CMM Karolinska Institutet and Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Ospedale Pediatrico Bambino Gesu\u2014IRCCS Roma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Van der Aa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Antwerp University Hospital and University of Antwerp Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Moog","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.017"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn920"},{"key":"e_1_2_6_4_1","first-page":"207","article-title":"Cloning of the human homologue of the GABA transporter GAT\u20103 and identification of a novel inhibitor with selectivity for this site","volume":"2","author":"Borden LA","year":"1994","journal-title":"Receptors Channels"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10323"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3364-04.2005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2058"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000035"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.10.842"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1625"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33353"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/FPC.0b013e328318b21a"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0600451103"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35876"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature04723"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0701311104"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0169-328X(93)90032-K"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350225"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35559"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35562"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/374319"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10945"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32824"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2013.00165"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36761","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36761","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:28:29Z","timestamp":1696595309000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,24]]},"references-count":24,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1002\/ajmg.a.36761"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36761","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,24]]}}}