{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:48:47Z","timestamp":1787068127693,"version":"build-2736575974"},"reference-count":6,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T00:00:00Z","timestamp":1665619200000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The FAR1\u2010related phenotypes caused by the\n                    <jats:italic>FAR1<\/jats:italic>\n                    gene encodes the peroxisomal protein fatty acyl\u2010CoA reductase 1 (FAR1), which is required to reduce fatty acids to fatty alcohols used to form ether\u2010linked alkyl bonds. Biallelic loss\u2010of\u2010function variants have been associated with severe psychomotor developmental delay, seizures, cataracts, growth retardation with microcephaly, and spasticity. However, heterozygous variants in\n                    <jats:italic>FAR1<\/jats:italic>\n                    have been recently linked to a rare genetic disorder called cataracts, spastic paraparesis, and speech delay (CSPSD). Here, we present the first Middle Eastern patient with a de novo pathogenic heterozygous variant in\n                    <jats:italic>FAR1<\/jats:italic>\n                    identified by exome sequencing (ES) analysis and a detailed overview of the reported clinical phenotypes and genotypes. Our patient represents the milder end of the clinical spectrum, with medication\u2010free seizures by the first year of life, proper speech and fine motor development, as well as an absence of other previously reported features such as learning difficulties, axial hypotonia, and joint contracture. In addition, she had developmental dysplasia of the hip (DDH) that failed medical management, as well as faltering growth. Our patient adds to the small number of patients recognized to date and expands the clinical spectrum to provide better clinical delineation, improve diagnosis, and develop precision medicine approaches for this disorder.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.6307","type":"journal-article","created":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T23:20:57Z","timestamp":1665703257000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Milder presentation of autosomal dominant fatty acyl\n                    <scp>CoA<\/scp>\n                    reductase 1\u2010related syndrome: Report of the first Middle Eastern patient and review of the literature"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6057-9603","authenticated-orcid":false,"given":"Mohammed","family":"Almuqbil","sequence":"first","affiliation":[{"name":"College of Medicine King Saud bin Abdulaziz University for Health Sciences (KSAU\u2010HS)  Riyadh Saudi Arabia"},{"name":"Division of Pediatric Neurology, King Abdullah Specialist Children\u2019s Hospital (KASCH) National Guard Health Affairs (NGHA)  Riyadh Saudi Arabia"},{"name":"King Abdullah International Medical Research Center (KAIMRC) Ministry of National Guard  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlam","family":"AbuMelha","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, King Abdullah Specialist Children\u2019s Hospital (KASCH) National Guard Health Affairs (NGHA)  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7380-0760","authenticated-orcid":false,"given":"Daniah","family":"Albokhari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Taibah University College of Medicine  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.003"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-01027-3"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M406225200"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.083311"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.498345"},{"key":"e_1_2_10_7_1","volume-title":"Online Mendelian Inheritance in Man, OMIM\u00ae","author":"Online Mendelian Inheritance in Man, OMIM\u00ae","year":"2022"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6307","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.6307","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T22:01:29Z","timestamp":1692482489000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.6307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10]]},"references-count":6,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1002\/ccr3.6307"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.6307","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10]]},"assertion":[{"value":"2022-06-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e6307"}}