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We report a cohort of nine infants who presented at birth with severe neonatal features suggestive of ZSD and found to be homozygous for a variant in <jats:italic>PEX6<\/jats:italic> (NM_000287.4:c.1409G\u2009&gt;\u2009C[p.Gly470Ala]). All were of Mixtec ancestry and identified by the California Newborn Screening (NBS) Program to have elevated C26:0\u2010lysophosphatidylcholine but no reportable variants in <jats:italic>ABCD1<\/jats:italic>. The clinical and biochemical features of this cohort are described within. Gly470Ala may represent a founder variant in the Mixtec population of Central California. ZSD should be considered in patients who present at birth with severe hypotonia and enlarged fontanelles, especially in the setting of an abnormal NBS, Mixtec ancestry, or family history of infant death. There is a need to further characterize the natural history of ZSD, the Gly470Ala variant, and expand upon possible genotype\u2013phenotype correlations.<\/jats:p>","DOI":"10.1002\/ajmg.a.63234","type":"journal-article","created":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T11:48:51Z","timestamp":1683287331000},"page":"2057-2063","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A homozygous <scp>Gly470Ala<\/scp> variant in <scp><i>PEX6<\/i><\/scp> causes severe <scp>Zellweger<\/scp> spectrum disorder"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9702-6108","authenticated-orcid":false,"given":"Carolina I.","family":"Galarreta","sequence":"first","affiliation":[{"name":"Medical Genetics and Metabolism Department Valley Children's Hospital  Madera California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Valley Children's Hospital  Madera California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Carmichael","sequence":"additional","affiliation":[{"name":"Medical Genetics and Metabolism Department Valley Children's Hospital  Madera California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Woods","sequence":"additional","affiliation":[{"name":"Medical Genetics and Metabolism Department Valley Children's Hospital  Madera California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6227-7895","authenticated-orcid":false,"given":"Christina G.","family":"Tise","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie D.","family":"Niehaus","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison J.","family":"Schildt","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney P.","family":"Verscaj","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina P.","family":"Cusmano\u2010Ozog","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.07.006"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11121891"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.1113"},{"key":"e_1_2_10_5_1","unstructured":"ClinVar. 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