{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:37:26Z","timestamp":1792694246351,"version":"4.5.0"},"reference-count":39,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2015,12,1]],"date-time":"2015-12-01T00:00:00Z","timestamp":1448928000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,6,3]],"date-time":"2016-06-03T00:00:00Z","timestamp":1464912000000},"content-version":"vor","delay-in-days":185,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1016\/j.ajhg.2015.11.002","type":"journal-article","created":{"date-parts":[[2015,12,4]],"date-time":"2015-12-04T09:47:49Z","timestamp":1449222469000},"page":"886-893","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":232,"title":["Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8"],"prefix":"10.1016","volume":"97","author":[{"given":"Kym\u00a0M.","family":"Boycott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandree\u00a0L.","family":"Beaulieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin\u00a0D.","family":"Kernohan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ola\u00a0H.","family":"Gebril","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aziz","family":"Mhanni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert\u00a0E.","family":"Chudley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Redl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Hampson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"K\u00fcry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Tetreault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik\u00a0G.","family":"Puffenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James\u00a0N.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Bezieau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Uebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Schumacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert\u00a0A.","family":"Hegele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.\u00a0Ross","family":"McLeod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"G\u00e1lvez-Peralta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent\u00a0T.","family":"Ramaekers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel\u00a0W.","family":"Nebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.\u00a0Micheil","family":"Innes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian\u00a0S.","family":"Parboosingh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rami","family":"Abou\u00a0Jamra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2015.11.002_bib1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/978-94-007-7500-8_7","article-title":"Manganese in health and disease","volume":"13","author":"Avila","year":"2013","journal-title":"Met. Ions Life Sci."},{"key":"10.1016\/j.ajhg.2015.11.002_bib2","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1039\/c1mt00011j","article-title":"Molecular and genetic features of zinc transporters in physiology and pathogenesis","volume":"3","author":"Fukada","year":"2011","journal-title":"Metallomics"},{"key":"10.1016\/j.ajhg.2015.11.002_bib3","doi-asserted-by":"crossref","first-page":"3281","DOI":"10.1007\/s00018-014-1617-0","article-title":"Current understanding of ZIP and ZnT zinc transporters in human health and diseases","volume":"71","author":"Kambe","year":"2014","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.ajhg.2015.11.002_bib4","first-page":"350","article-title":"Total diet study: estimated dietary intakes of nutritional elements, 1982-1991","volume":"66","author":"Pennington","year":"1996","journal-title":"Int. J. Vitam. Nutr. Res."},{"key":"10.1016\/j.ajhg.2015.11.002_bib5","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1038\/ng913","article-title":"Identification of SLC39A4, a gene involved in acrodermatitis enteropathica","volume":"31","author":"K\u00fcry","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.11.002_bib6","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1016\/j.ajhg.2008.05.001","article-title":"Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13","volume":"82","author":"Giunta","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.11.002_bib7","doi-asserted-by":"crossref","first-page":"39699","DOI":"10.1074\/jbc.M605821200","article-title":"Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency","volume":"281","author":"Chowanadisai","year":"2006","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2015.11.002_bib8","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.ajhg.2012.01.018","article-title":"Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man","volume":"90","author":"Tuschl","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.11.002_bib9","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/ajmg.1320220303","article-title":"History and relevance of the Hutterite\u00a0population for genetic studies","volume":"22","author":"Hostetler","year":"1985","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2015.11.002_bib10","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1176\/appi.ajp.157.7.1065","article-title":"Low prevalence of psychoses among the Hutterites, an isolated religious community","volume":"157","author":"Nimgaonkar","year":"2000","journal-title":"Am. J. Psychiatry"},{"key":"10.1016\/j.ajhg.2015.11.002_bib11","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1002\/ajmg.a.32245","article-title":"Clinical genetics and the Hutterite population: a review of Mendelian disorders","volume":"146A","author":"Boycott","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2015.11.002_bib12","doi-asserted-by":"crossref","first-page":"11689","DOI":"10.1073\/pnas.0401194101","article-title":"Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function","volume":"101","author":"Puffenberger","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2015.11.002_bib13","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1136\/jmedgenet-2013-101567","article-title":"Mutations in WNT1 are a cause of osteogenesis imperfecta","volume":"50","author":"Fahiminiya","year":"2013","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2015.11.002_bib14","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1136\/jmedgenet-2012-101320","article-title":"Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS","volume":"50","author":"McDonald-McGinn","year":"2013","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2015.11.002_bib15","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2015.11.002_bib16","doi-asserted-by":"crossref","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.2015.11.002_bib17","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkp369","article-title":"HomozygosityMapper--an interactive approach to homozygosity mapping","volume":"37","author":"Seelow","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2015.11.002_bib18","doi-asserted-by":"crossref","first-page":"e1004320","DOI":"10.1371\/journal.pgen.1004320","article-title":"Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy","volume":"10","author":"Murakami","year":"2014","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2015.11.002_bib19","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1101\/gr.097857.109","article-title":"Detection of nonneutral substitution rates on mammalian phylogenies","volume":"20","author":"Pollard","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2015.11.002_bib20","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1101\/gr.092619.109","article-title":"Identification of deleterious mutations within three human genomes","volume":"19","author":"Chun","year":"2009","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2015.11.002_bib21","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2015.11.002_bib22","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1093\/nar\/gkr407","article-title":"Predicting the functional impact of protein mutations: application to cancer genomics","volume":"39","author":"Reva","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2015.11.002_bib23","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1101\/gr.3577405","article-title":"Distribution and intensity of constraint in mammalian genomic sequence","volume":"15","author":"Cooper","year":"2005","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2015.11.002_bib24","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.11.002_bib25","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1007\/s00424-003-1074-3","article-title":"The SLC39 family of metal ion transporters","volume":"447","author":"Eide","year":"2004","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.ajhg.2015.11.002_bib26","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1186\/1479-7364-3-2-195","article-title":"Analysis and update of the human solute carrier (SLC) gene superfamily","volume":"3","author":"He","year":"2009","journal-title":"Hum. Genomics"},{"key":"10.1016\/j.ajhg.2015.11.002_bib27","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1124\/mol.106.024521","article-title":"ZIP8, member of the solute-carrier-39 (SLC39) metal-transporter family: characterization of transporter properties","volume":"70","author":"He","year":"2006","journal-title":"Mol. Pharmacol."},{"key":"10.1016\/j.ajhg.2015.11.002_bib28","doi-asserted-by":"crossref","first-page":"34032","DOI":"10.1074\/jbc.M112.367284","article-title":"ZIP8 is an iron and zinc transporter whose cell-surface expression is up-regulated by cellular iron loading","volume":"287","author":"Wang","year":"2012","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2015.11.002_bib29","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1146\/annurev.nutr.24.012003.132402","article-title":"Mammalian zinc transporters","volume":"24","author":"Liuzzi","year":"2004","journal-title":"Annu. Rev. Nutr."},{"key":"10.1016\/j.ajhg.2015.11.002_bib30","series-title":"Interrelations between Essential Metal Ions and Human Diseases","first-page":"199","article-title":"Manganese in health and disease","author":"Avila","year":"2013"},{"key":"10.1016\/j.ajhg.2015.11.002_bib31","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1126\/science.1260419","article-title":"Tissue-based map of the human proteome","volume":"347","author":"Uhl\u00e9n","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2015.11.002_bib32","doi-asserted-by":"crossref","first-page":"4739","DOI":"10.1093\/hmg\/ddv190","article-title":"Genome-wide association study of toxic metals and trace elements reveals novel associations","volume":"24","author":"Ng","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2015.11.002_bib33","doi-asserted-by":"crossref","first-page":"e36055","DOI":"10.1371\/journal.pone.0036055","article-title":"ZIP8 zinc transporter: indispensable role for both multiple-organ organogenesis and hematopoiesis in utero","volume":"7","author":"G\u00e1lvez-Peralta","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2015.11.002_bib34","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1097\/MCO.0b013e32834d1a08","article-title":"Arginases and arginine deficiency syndromes","volume":"15","author":"Morris","year":"2012","journal-title":"Curr. Opin. Clin. Nutr. Metab. Care"},{"key":"10.1016\/j.ajhg.2015.11.002_bib35","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1007\/s10545-006-0256-5","article-title":"Inborn error of amino acid synthesis: human glutamine synthetase deficiency","volume":"29","author":"H\u00e4berle","year":"2006","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2015.11.002_bib36","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1097\/EDE.0b013e3181df8e52","article-title":"Early postnatal blood manganese levels and children\u2019s neurodevelopment","volume":"21","author":"Claus Henn","year":"2010","journal-title":"Epidemiology"},{"key":"10.1016\/j.ajhg.2015.11.002_bib37","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1093\/jn\/100.6.643","article-title":"Congenital ataxia and otolith defects due to manganese deficiency in mice","volume":"100","author":"Erway","year":"1970","journal-title":"J.\u00a0Nutr."},{"key":"10.1016\/j.ajhg.2015.11.002_bib38","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/jat.1762","article-title":"Role of glial cells in manganese neurotoxicity","volume":"32","author":"Filipov","year":"2012","journal-title":"J.\u00a0Appl. Toxicol."},{"key":"10.1016\/j.ajhg.2015.11.002_bib39","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.ajhg.2015.11.003","article-title":"SLC39A8 deficiency: A disorder of manganese transport and glycosylation","volume":"97","author":"Park","year":"2015","journal-title":"Am. J. Hum. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929715004474?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929715004474?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T05:40:52Z","timestamp":1567402852000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929715004474"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12]]},"references-count":39,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["S0002929715004474"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.11.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2015,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.11.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.11.003","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}