{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T11:44:21Z","timestamp":1788349461464,"version":"build-2803163510"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T00:00:00Z","timestamp":1372896000000},"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":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Defects in the <jats:italic>TUSC3<\/jats:italic> gene have been identified in individuals with nonsyndromic autosomal recessive intellectual disability (ARID), due to either point mutations or intragenic deletions. We report on a boy with a homozygous microdeletion 8p22, sizing 203\u2009kb, encompassing the first exon of the <jats:italic>TUSC3<\/jats:italic> gene, detected by SNP\u2010array analysis (Human Gene Chip 6.0; Affymetrix). Both nonconsanguineous parents come from a small Sicilian village and were heterozygous carriers of the microdeletion. The propositus had a few dysmorphic features and a moderate cognitive impairment. Verbal communication was impaired, with an inappropriate phonetic inventory, important phono\u2010articolatory distortions, and bucco\u2010phonatory dyspraxia. Comprehension was possible for simple sentences. Behavior was characterized by motor instability, high tendency to irritability and distraibility, anxiety traits, and an oppositional\u2010defiant disorder. His parents were of normal intelligence. <jats:italic>TUSC3<\/jats:italic> is thought to encode a subunit of the endoplasmic reticulum\u2010bound oligosaccharyltranferase complex that catalyzes a pivotal step in the protein <jats:italic>N<\/jats:italic>\u2010glycosylation process. <jats:italic>TUSC3<\/jats:italic> has been recently reported as a member of the plasma membrane Mg<jats:sup>2+<\/jats:sup> transport system, with a possible involvement in learning abilities, working memory and short\u2010 and long\u2010term memory. This is the third family in which a deletion has been described. Although the pathogenic mechanism has not been clarified yet, our report argues for a more prominent role of <jats:italic>TUSC3<\/jats:italic> in the etiology of intellectual disability and that deletions encompassing this gene could be more common than expected. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36028","type":"journal-article","created":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T09:22:36Z","timestamp":1372929756000},"page":"2084-2087","source":"Crossref","is-referenced-by-count":17,"title":["Homozygous deletion in <i>TUSC3<\/i> causing syndromic intellectual disability: A new patient"],"prefix":"10.1002","volume":"161","author":[{"given":"Sara","family":"Loddo","sequence":"first","affiliation":[{"name":"Mendel Laboratory IRCCS \u201cCasa Sollievo della Sofferenza\u201d Hospital San Giovanni Rotondo (FG) Italy"},{"name":"Department of Experimental Medicine Sapienza University of Rome Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Parisi","sequence":"additional","affiliation":[{"name":"Mendel Laboratory IRCCS \u201cCasa Sollievo della Sofferenza\u201d Hospital San Giovanni Rotondo (FG) Italy"},{"name":"Department of Molecular Medicine Sapienza University Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viola","family":"Doccini","sequence":"additional","affiliation":[{"name":"Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry Calambrone (Pisa) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Filippi","sequence":"additional","affiliation":[{"name":"Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry Calambrone (Pisa) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Mendel Laboratory IRCCS \u201cCasa Sollievo della Sofferenza\u201d Hospital San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Brovedani","sequence":"additional","affiliation":[{"name":"Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry Calambrone (Pisa) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Ricci","sequence":"additional","affiliation":[{"name":"Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry Calambrone (Pisa) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Mendel Laboratory IRCCS \u201cCasa Sollievo della Sofferenza\u201d Hospital San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agatino","family":"Battaglia","sequence":"additional","affiliation":[{"name":"Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry Calambrone (Pisa) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,4]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Diagnostic and statistical manual of mental disorders","author":"American Psychiatric Association","year":"1995"},{"key":"e_1_2_6_3_1","first-page":"127","article-title":"Mental retardation and multiple congenital anomalies of unknown etiology: Frequency of occurrence in similarly affected sibs of the proband","volume":"14","author":"Bartley JA","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.154"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20601"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201595"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.03.018"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34077"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cll.2011.08.003"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-12-56"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.018"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9337-1"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.03.021"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0292-0"},{"key":"e_1_2_6_15_1","first-page":"42","article-title":"An approach to genetic factors in mental retardation. Studies of families containing at least two siblings admitted to a state institution for the retarded","volume":"66","author":"Priest JH","year":"1961","journal-title":"Am J Ment Defic"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01405.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2008.07.008"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1501"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.167"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2009.12.026"},{"key":"e_1_2_6_21_1","first-page":"6","article-title":"Standardizzazione e taratura italiana di test neuropsicologici","volume":"8","author":"Spinnler H","year":"1987","journal-title":"Ital J Neurolog Sci"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1959.02070010447010"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0908332106"}],"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.36028","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36028","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:00:37Z","timestamp":1696633237000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36028"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,4]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1002\/ajmg.a.36028"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36028","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,4]]}}}