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Through a combination of homozygosity mapping and whole\u2010genome sequencing, we identified a homozygous copy number variant in <jats:italic><jats:styled-content style=\"fixed-case\">GLS<\/jats:styled-content><\/jats:italic> as the cause. The duplication leads to complete knockout of <jats:italic><jats:styled-content style=\"fixed-case\">GLS<\/jats:styled-content><\/jats:italic> expression. <jats:italic><jats:styled-content style=\"fixed-case\">GLS<\/jats:styled-content><\/jats:italic> encodes the brain\u2010 and kidney\u2010specific enzyme glutaminase, which hydrolyzes glutamine for the production of glutamate, the most abundant central nervous system neurotransmitter. This is the first report implicating <jats:italic><jats:styled-content style=\"fixed-case\">GLS<\/jats:styled-content><\/jats:italic> loss of function in human disease.<\/jats:p>","DOI":"10.1002\/acn3.522","type":"journal-article","created":{"date-parts":[[2018,1,22]],"date-time":"2018-01-22T16:34:53Z","timestamp":1516638893000},"page":"216-221","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<i><scp>GLS<\/scp><\/i> loss of function causes autosomal recessive spastic ataxia and optic atrophy"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0615-7159","authenticated-orcid":false,"given":"David S.","family":"Lynch","sequence":"first","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viorica","family":"Chelban","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Vandrovcova","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Pittman","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas W.","family":"Wood","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom"},{"name":"Neurogenetics Unit National Hospital for Neurology &amp; Neurosurgery Queen Sq London WC1N 3BG United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,1,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/72769"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102012"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001288"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002325"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.04.008"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp369"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2014-15-6-r84"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2011.07432.x"},{"key":"e_1_2_7_10_1","unstructured":"ExAC.No Title. 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