{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T18:22:32Z","timestamp":1789150952399,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,15]],"date-time":"2020-09-15T00:00:00Z","timestamp":1600128000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Backgroundd<\/jats:title><jats:p>Sjogren\u2013Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a seven\u2010years\u2010old female born to consanguineous parents who presented with erythematous dry scaly skin all over the body sparing the face, without collodion membrane which started since birth. There were associated with global developmental delay and seizure disorder. SLS was suspected and hence sequence analysis of the <jats:italic>ALDH3A2<\/jats:italic> gene by next\u2010generation sequencing was performed for the patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel nucleotide exchange in homozygous state at position c.1320 in exon 9 of the <jats:italic>ALDH3A2<\/jats:italic> gene (c.1320T&gt;A), leading to a stop of the protein sequence (p.Tyr440) was detected in the patient. Genetic testing of the patient's extended family revealed another four affected family members with the same mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>SLS should be suspected in any patient with a triad of ichthyosis, intellectual disability and spastic di\/tetraplegia. Molecular genetic testing of the <jats:italic>ALDH3A2<\/jats:italic> gene should be performed to confirm the diagnosis. Extended family screening is highly recommended.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1487","type":"journal-article","created":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T07:20:17Z","timestamp":1600240817000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Sjogren\u2013Larsson Syndrome: A case series of five members from an extended family with a novel mutation"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9608-2105","authenticated-orcid":false,"given":"Kamel T.","family":"Abidi","sequence":"first","affiliation":[{"name":"Faculty of Medicine Al Manar University  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8535-3838","authenticated-orcid":false,"given":"Naglaa M.","family":"Kamal","sequence":"additional","affiliation":[{"name":"Kasr Alainy Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayman A.","family":"Bakkar A.","sequence":"additional","affiliation":[{"name":"Alhada Armed Forces Hospital  Taif KSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maram","family":"Alotaibi","sequence":"additional","affiliation":[{"name":"Alhada Armed Forces Hospital  Taif KSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haifa","family":"Asseri","sequence":"additional","affiliation":[{"name":"Alhada Armed Forces Hospital  Taif KSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kawthar A.","family":"Bokari","sequence":"additional","affiliation":[{"name":"Taif University  Taif KSA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S193969"},{"issue":"4","key":"e_1_2_10_3_1","first-page":"133","article-title":"Sjogren\u2010larsson syndrome: A rare differential diagnosis of cerebral palsy","volume":"1","author":"Carman K. B.","year":"2012","journal-title":"International Journal of Clinical Pediatrics"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13058"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0180-z"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.05.015"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/17518420902800944"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12861"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00758.x"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.4103\/2229-5178.79866"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2006000300009"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1155\/2017\/7981750"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.08.006"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2013.09.001"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2016.1154453"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-385157-4.00092-0"},{"key":"e_1_2_10_17_1","first-page":"1","article-title":"Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study","volume":"113","author":"Sjogren T.","year":"1957","journal-title":"Acta Psychiatrica Neurologica Scandinavica Supplementum."},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2009.10.019"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1487","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1487","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1487","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1487","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T11:56:24Z","timestamp":1708516584000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1487"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,15]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/mgg3.1487"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1487","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,15]]},"assertion":[{"value":"2020-05-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1487"}}