{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T11:59:04Z","timestamp":1779364744604,"version":"3.53.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T00:00:00Z","timestamp":1695686400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T00:00:00Z","timestamp":1695686400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"DeNA laboratory, Pardis Gene Technology company"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Pathogenic variants in the <jats:italic>ATCAY<\/jats:italic> gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention tremor, ataxic gait and dysarthric in some cases.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Whole exome sequencing was performed for a 21-month-old girl suffering from developmental delay specifically in motor and language aspects, hypotonia, nystagmus, pes planus and strabismus. The detected variant in the patient was confirmed by family segregation analysis by Sanger sequencing in both of her parents. Previously three homozygous variants in the <jats:italic>ATCAY<\/jats:italic> gene (missense, splice site and frameshift deletion) have been reported in patients with Cayman cerebellar ataxia. Here we report the fourth homozygous variant and the second homozygous frameshift deletion in this gene to be associated with autosomal recessive Cayman cerebellar ataxia.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The identification of this novel homozygous frameshift deletion in the <jats:italic>ATCAY<\/jats:italic> gene expands our understanding of the genetic landscape underlying Cayman cerebellar ataxia. Furthermore, the occurrence of this variant in Iran, in addition to Pakistan, signifies the importance of considering genotypic and phenotypic factors beyond ethnicity when studying this disorder. These findings contribute to the ongoing efforts to unravel the molecular basis of Cayman cerebellar ataxia and improve diagnostic approaches and potential therapeutic interventions.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-023-01643-3","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T12:02:45Z","timestamp":1695729765000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report"],"prefix":"10.1186","volume":"16","author":[{"given":"Elham Salehi","family":"Siavashani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Reza","family":"Ashrafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Homa","family":"Ghabeli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morteza","family":"Heidari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,9,26]]},"reference":[{"issue":"4","key":"1643_CR1","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1093\/hmg\/5.4.525","volume":"5","author":"A Nystuen","year":"1996","unstructured":"Nystuen A, et al. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Molec Genet. 1996;5(4):525\u201331. https:\/\/doi.org\/10.1093\/hmg\/5.4.525. (PMID: 8845847).","journal-title":"Hum. Molec Genet"},{"issue":"3","key":"1643_CR2","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1038\/ng1255","volume":"35","author":"JM Bomar","year":"2003","unstructured":"Bomar JM, et al. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia\/dystonia in the jittery mouse. Nature Genet. 2003;35(3):264\u20139. https:\/\/doi.org\/10.1038\/ng1255. (PMID: 14556008).","journal-title":"Nature Genet."},{"key":"1643_CR3","unstructured":"Brown LM, et al. A nonprogressive cerebellar ataxia on Grand Cayman Island. 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The written informed consent was received from both guardians in order to participate in this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Both guardians provided a signed written consent to publish all personal and medical details included in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"226"}}