{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:39:07Z","timestamp":1772159947545,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T00:00:00Z","timestamp":1428537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"This work was funded by the Deanship of Scientific Research (DSR), King Abdulaziz University, Jeddah, under grant No. (140-174-D1435). The authors, therefore, acknowledge with thanks DSR technical and financial support","award":["140-174-D1435"],"award-info":[{"award-number":["140-174-D1435"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Sj\u00f6gren\u2013Larsson syndrome (SLS) is a neurocutaneous disorder inherited in an autosomal recessive fashion. SLS patients are characterized by lipid metabolism error, primarily leading to cardinal signs of ichthyosis, spasticity and mental retardation. Additional signs include short stature, epilepsy, retinal abnormalities and photophobia. More than 90 mutations of the\n                    <jats:italic>ALDH3A2<\/jats:italic>\n                    gene have been reported for SLS, and such variants can be successfully detected at a rate of 94% by direct DNA sequencing. We performed direct sequencing of\n                    <jats:italic>ALDH3A2<\/jats:italic>\n                    gene from the index patient, however, no mutation could be detected. HumanCytoSNPs12 array analysis and subsequent targeted single nucleotide polymorphism analysis revealed a novel deletion mutation at chromosome 17p11.2. This 67\u2010Kb region includes the first five coding exons of\n                    <jats:italic>ALDH3A2<\/jats:italic>\n                    , and is flanked by rs2245639 and rs962801. To the best of our knowledge, this mutation is novel and our findings broaden the mutation spectrum of\n                    <jats:italic>ALDH3A2<\/jats:italic>\n                    causing SLS phenotype.\n                  <\/jats:p>","DOI":"10.1111\/1346-8138.12861","type":"journal-article","created":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T02:32:42Z","timestamp":1428546762000},"page":"706-709","source":"Crossref","is-referenced-by-count":16,"title":["Case of Sj\u00f6gren\u2013Larsson syndrome with a large deletion in the\n                    <i>ALDH3A2<\/i>\n                    gene confirmed by single nucleotide polymorphism array analysis"],"prefix":"10.1111","volume":"42","author":[{"given":"Nagwa E. A.","family":"Gaboon","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine Faculty of Medicine King Abdulaziz University Jeddah Saudi Arabia"},{"name":"Medical Genetic Center Faculty of Medicine Ain Shams University Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Musharraf","family":"Jelani","sequence":"additional","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders King Abdulaziz University Jeddah Saudi Arabia"},{"name":"Medical Genetics and Molecular Biology Unit Biochemistry Department Institute of Basic Medical Sciences Khyber Medical University Peshawar Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona M.","family":"Almramhi","sequence":"additional","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders King Abdulaziz University Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hussein S. A.","family":"Mohamoud","sequence":"additional","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders King Abdulaziz University Jeddah Saudi Arabia"},{"name":"Human Genetics Research Centre Division of Biomedical Sciences (BMS) St George's University of London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jumana Y.","family":"Al\u2010Aama","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Faculty of Medicine King Abdulaziz University Jeddah Saudi Arabia"},{"name":"Princess Al\u2010Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders King Abdulaziz University Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-009-1022-y"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-52"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2007.00152.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.7.1426"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0561"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9518-6"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1236"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/0972-2327.116927"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21581"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.7.1426"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.4161\/derm.3.2.14619"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.108"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.05.015"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12861","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12861","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T15:47:04Z","timestamp":1695484024000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12861"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,9]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1111\/1346-8138.12861"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12861","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.725428921.793519145","asserted-by":"object"}]},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,9]]}}}