{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:01:02Z","timestamp":1791302462195,"version":"4.1.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2011,6,1]],"date-time":"2011-06-01T00:00:00Z","timestamp":1306886400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":813,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2011,6]]},"DOI":"10.1016\/j.ajhg.2011.04.019","type":"journal-article","created":{"date-parts":[[2011,6,6]],"date-time":"2011-06-06T16:30:11Z","timestamp":1307377811000},"page":"788-795","source":"Crossref","is-referenced-by-count":222,"title":["Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature"],"prefix":"10.1016","volume":"88","author":[{"given":"Rami","family":"Abou\u00a0Jamra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orianne","family":"Philippe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Raas-Rothschild","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian\u00a0H.","family":"Eck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Graf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Buchert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guntram","family":"Borck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arif","family":"Ekici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix\u00a0F.","family":"Brockschmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus\u00a0M.","family":"N\u00f6then","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim\u00a0M.","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Colleaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2011.04.019_bib1","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1146\/annurev-genom-082509-141640","article-title":"Genetics of early onset cognitive impairment","volume":"11","author":"Ropers","year":"2010","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib2","doi-asserted-by":"publisher","first-page":"2063","DOI":"10.1002\/ajmg.a.31416","article-title":"Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation","volume":"140","author":"Rauch","year":"2006","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2011.04.019_bib3","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1038\/nrg1501","article-title":"X-linked mental retardation","volume":"6","author":"Ropers","year":"2005","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib4","doi-asserted-by":"publisher","first-page":"1285","DOI":"10.1093\/hmg\/ddq569","article-title":"Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13","volume":"20","author":"\u00c7al\u0131\u015fkan","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib5","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1016\/j.ajhg.2008.03.018","article-title":"A defect in the TUSC3 gene is associated with autosomal recessive mental retardation","volume":"82","author":"Garshasbi","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib6","doi-asserted-by":"publisher","first-page":"1927","DOI":"10.1212\/01.WNL.0000146196.01316.A2","article-title":"A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation","volume":"63","author":"Higgins","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2011.04.019_bib7","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1016\/j.ajhg.2009.11.009","article-title":"Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation","volume":"85","author":"Mir","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib8","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1016\/j.ajhg.2009.10.027","article-title":"A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly","volume":"85","author":"Mochida","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib9","doi-asserted-by":"publisher","first-page":"1150","DOI":"10.1016\/j.ajhg.2008.03.021","article-title":"Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation","volume":"82","author":"Molinari","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib10","doi-asserted-by":"publisher","first-page":"1779","DOI":"10.1126\/science.1076521","article-title":"Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation","volume":"298","author":"Molinari","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2011.04.019_bib11","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1086\/521275","article-title":"A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation","volume":"81","author":"Motazacker","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib12","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1016\/j.ajhg.2009.11.007","article-title":"Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation","volume":"85","author":"Philippe","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib13","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1086\/301904","article-title":"PedCheck: A program for identification of genotype incompatibilities in linkage analysis","volume":"63","author":"O'Connell","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib14","doi-asserted-by":"publisher","first-page":"3565","DOI":"10.1093\/bioinformatics\/bti571","article-title":"easyLINKAGE-Plus\u2014automated linkage analyses using large-scale SNP data","volume":"21","author":"Hoffmann","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2011.04.019_bib15","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1093\/bioinformatics\/bti009","article-title":"easyLINKAGE: A PERL script for easy and automated two-\/multi-point linkage analyses","volume":"21","author":"Lindner","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2011.04.019_bib16","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1038\/ng1005-1015","article-title":"Allegro version 2","volume":"37","author":"Gudbjartsson","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib17","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.98","article-title":"Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity","author":"Abou Jamra","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib18","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2011.04.019_bib19","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"Web Server issue","key":"10.1016\/j.ajhg.2011.04.019_bib20","doi-asserted-by":"publisher","first-page":"W593","DOI":"10.1093\/nar\/gkp369","article-title":"HomozygosityMapper\u2014an interactive approach to homozygosity mapping","volume":"37","author":"Seelow","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.04.019_bib21","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2011.04.019_bib22","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/S0378-1119(02)00422-5","article-title":"Genetic analyses of adaptin function from yeast to mammals","volume":"286","author":"Boehm","year":"2002","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2011.04.019_bib23","doi-asserted-by":"publisher","first-page":"6265","DOI":"10.1093\/emboj\/20.22.6265","article-title":"Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs)","volume":"20","author":"Boehm","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2011.04.019_bib24","doi-asserted-by":"publisher","first-page":"7278","DOI":"10.1074\/jbc.274.11.7278","article-title":"AP-4, a novel protein complex related to clathrin adaptors","volume":"274","author":"Dell'Angelica","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.04.019_bib25","doi-asserted-by":"publisher","first-page":"2787","DOI":"10.1091\/mbc.10.8.2787","article-title":"Characterization of a fourth adaptor-related protein complex","volume":"10","author":"Hirst","year":"1999","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2011.04.019_bib26","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/S0014-5793(96)01500-1","article-title":"Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2","volume":"402","author":"Wang","year":"1997","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ajhg.2011.04.019_bib27","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1016\/j.devcel.2010.01.015","article-title":"Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex","volume":"18","author":"Burgos","year":"2010","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2011.04.019_bib28","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1016\/j.neuron.2008.02.012","article-title":"Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4","volume":"57","author":"Matsuda","year":"2008","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2011.04.019_bib29","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1002\/humu.20531","article-title":"Clinical, cellular, and neuropathological consequences of AP1S2 mutations: Further delineation of a recognizable X-linked mental retardation syndrome","volume":"29","author":"Borck","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2011.04.019_bib30","doi-asserted-by":"publisher","first-page":"1119","DOI":"10.1086\/510137","article-title":"Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation","volume":"79","author":"Tarpey","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib31","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.ajhg.2009.06.004","article-title":"Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy","volume":"85","author":"Verkerk","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.04.019_bib32","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1136\/jmg.2010.082263","article-title":"Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability","volume":"48","author":"Moreno-De-Luca","year":"2011","journal-title":"J. Med. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711001601?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711001601?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,2]],"date-time":"2018-12-02T04:24:43Z","timestamp":1543724683000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929711001601"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6]]},"references-count":32,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["S0002929711001601"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.04.019","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2011,6]]}}}