{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T22:48:30Z","timestamp":1788043710259,"version":"build-2784847793"},"reference-count":18,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2024]]},"abstract":"<b><i>Introduction:<\/i><\/b> Canavan disease is an autosomal recessive disorder that causes accumulation of N-acetyl ASPArtic acid in the brain due to ASPArtoacylase deficiency with homozygous or compound heterozygous pathogenic variants in the <i>ASPA<\/i> gene located on the short arm of chromosome 17. Clinical findings are hypotonia, progressive macrocephaly, deafness, nystagmus, blindness, and brain atrophy. <b><i>Case Presentation:<\/i><\/b> A one-year-old female case was evaluated in our medical genetics clinic for hypotonia, nystagmus, and strabismus. Chromosome analysis and array-comparative genomic hybridization showed no pathology. Clinical exome sequencing by next-generation sequencing was performed and a homozygous likely pathogenic variant NM_000049.4(<i>ASPA<\/i>):c.857C &gt; A p.(Ala286Asp) was identified. Sanger sequencing of the parents showed that the index case had a homozygous genotype, the father was heterozygous and the mother had a wild genotype for the identified variant in <i>ASPA<\/i>. A single nucleotide polymorphism (SNP) array test was planned for the family to explain this homozygosity and a loss of maternal heterozygosity was determined in the 17p13.3-p13.2 region of the <i>ASPA<\/i> gene. <b><i>Conclusion:<\/i><\/b> In this report, we aimed to present the first case of Canavan disease with maternal loss of heterozygosity in the <i>ASPA<\/i> gene. <\/jats:p>","DOI":"10.1159\/000536386","type":"journal-article","created":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T22:00:30Z","timestamp":1708380030000},"page":"284-288","source":"Crossref","is-referenced-by-count":1,"title":["Homozygous Paternally Inherited <i>ASPA<\/i> Variant in a Patient with Canavan Disease"],"prefix":"10.1159","volume":"15","author":[{"given":"Sinem","family":"Yalcintepe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuba","family":"Maras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilke","family":"Kizilyar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazal","family":"Sezginer Guler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Drenushe","family":"Zhuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Engin","family":"Atli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Ozen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakan","family":"Gurkan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2024,2,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.1061257"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1177\/2050313X231160885"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-017-1784-9"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.drudis.2022.05.019"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2022.104391"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1931.02230020085005"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.5152\/cjms.2021.953"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2014-208755"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0549-1"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2016.03.001"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-015-9767-9"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-015-9772-z"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/jdn.10036"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2019.11.009"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s40477-022-00667-2"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2013.09.004"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093\/tropej\/fmm099"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058016"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/4\/284\/4262339\/000536386.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/4\/284\/4262339\/000536386.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:06:50Z","timestamp":1745424410000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000536386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":18,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,8,7]]},"published-print":{"date-parts":[[2024,8,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000536386","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.25233682","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024]]}}}