{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:03:24Z","timestamp":1790744604073,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,10]],"date-time":"2022-12-10T00:00:00Z","timestamp":1670630400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic pathogenic variants in the\n                    <jats:italic>COASY<\/jats:italic>\n                    gene have been associated with two distinct disease phenotypes, that is,\n                    <jats:italic>COASY<\/jats:italic>\n                    \u2010protein associated neurodegeneration (CoPAN) and pontocerebellar hypoplasia type 12 (PCH 12). We present two siblings that independently presented with significant hypotonia and respiratory insufficiency at birth. Comprehensive genetic testing revealed homozygous variants within\n                    <jats:italic>COASY<\/jats:italic>\n                    , however, the progressive clinical and neuroradiologic findings described here are unique and have not been described previously. Magnetic resonance imaging showed progressive diffuse parenchymal loss throughout the bilateral cerebral hemispheres and atrophy of the basal ganglia and brainstem. As such, this article brings forth two additional cases of\n                    <jats:italic>COASY<\/jats:italic>\n                    \u2010related disorder with abnormal newborn screening acylcarnitine profiles resembling carnitine palmitoyl transferase 1a (CPT1a) deficiency in two siblings who presented at birth with contractures, marked hypotonia and absent respiratory drive.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63076","type":"journal-article","created":{"date-parts":[[2022,12,10]],"date-time":"2022-12-10T06:23:58Z","timestamp":1670653438000},"page":"842-845","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic\n                    <scp>\n                      <i>COASY<\/i>\n                    <\/scp>\n                    variants"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2582-5378","authenticated-orcid":false,"given":"Justin","family":"Rosati","sequence":"first","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zinandre","family":"Stander","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"White","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Tortorelli","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Bailey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin\u2010To","family":"Fong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9646-4018","authenticated-orcid":false,"given":"Bo Hoon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester  Rochester New York USA"},{"name":"Department of Pediatrics University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2016.03.011"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12026"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.008"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38252"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-63233-3.00019-1"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201910488"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.plipres.2005.04.001"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12458"},{"key":"e_1_2_6_10_1","unstructured":"Matthew Lynch G. W. Murry C. Pereira N. Price R. McGill H. &Coman D.(2021).Abnormal newborn screening resembling CPT1a deficiency in three patients with COASY mutations. Abstract at 2021 International Congress of Inborn Errors of Metabolism."},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.194"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq287"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1230593"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7020023"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.01.071"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.190"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0233-0"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63076","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63076","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63076","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T21:35:49Z","timestamp":1692308149000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,10]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/ajmg.a.63076"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63076","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,10]]},"assertion":[{"value":"2022-05-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}