{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:20Z","timestamp":1753861760987,"version":"3.41.2"},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T00:00:00Z","timestamp":1699228800000},"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":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spastic paraplegia 3A (SPG3A) has long been considered as an autosomal dominant disorder till the report in 2014 and 2016 of two consanguineous Arabic families, showing that <jats:italic>ATL1<\/jats:italic> mutations may cause autosomal recessive paraplegia. Here, a third report of a consanguineous Arabic family with recessive SPG3A is described. Exome sequencing reveals homozygosity for a novel likely pathogenic <jats:italic>ATL1<\/jats:italic> splice donor variant (c.522+1G&gt;T) in an affected 5\u2010year\u2010old infant whereas the parents, heterozygous carriers, are asymptomatic. The infant's phenotype is consistent with an early onset complicated SPG3A with severe progressive spasticity of the lower limbs and intellectual disability.<\/jats:p>","DOI":"10.1002\/ajmg.a.63464","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T09:08:42Z","timestamp":1699261722000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel homozygous variant in <scp><i>ATL1<\/i><\/scp> associated with early onset spastic paraplegia <scp>3A<\/scp>: Further evidence for autosomal recessive inheritance"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3930-0011","authenticated-orcid":false,"given":"Sihem","family":"Darouich","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar Facult\u00e9 de M\u00e9decine de Tunis  Tunis Tunisia"},{"name":"CHU Habib Bougatfa, Unit\u00e9 de Pathologie F\u0153tale et Placentaire  Bizerte Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Darouich","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Tunis El Manar, Institut Sup\u00e9rieur des Sciences Humaines de Tunis  Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/10935266231151773"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09633-1"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.5"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12149-012-0673-5"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.6"}],"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.63464","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T09:55:50Z","timestamp":1707818150000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63464"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,6]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/ajmg.a.63464"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63464","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2023,11,6]]},"assertion":[{"value":"2023-08-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63464"}}