{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T00:40:09Z","timestamp":1748133609989,"version":"3.41.0"},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Pathogenic variations in the <jats:italic toggle=\"yes\">SLC9A6<\/jats:italic> gene are associated with an X-linked disorder Christianson syndrome characterized by developmental delay, microcephaly, intellectual disability, autistic-like behavior and epilepsy. We identified a novel pathogenic variation in the <jats:italic toggle=\"yes\">SLC9A6<\/jats:italic> gene in a boy with developmental delay and microcephaly. Herein we report the clinical findings of the case diagnosed as Christianson syndrome; his mother was found to carry the same variant.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000358","type":"journal-article","created":{"date-parts":[[2020,11,24]],"date-time":"2020-11-24T22:31:40Z","timestamp":1606257100000},"page":"36-38","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome"],"prefix":"10.1097","volume":"30","author":[{"given":"Sinem","family":"Yalcintepe","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakan","family":"Gurkan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2020,11,20]]},"reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1136\/jmg.36.10.759","article-title":"X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.","volume":"36","author":"Christianson","year":"1999","journal-title":"J Med Genet"},{"key":"R2-20250524","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/s41439-019-0046-x","article-title":"A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.","volume":"6","author":"Ieda","year":"2019","journal-title":"Hum Genome Var"},{"key":"R3-20250524","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/ana.24225","article-title":"Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.","volume":"76","author":"Pescosolido","year":"2014","journal-title":"Ann Neurol"},{"key":"R4-20250524","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1111\/j.1399-0004.2012.01948.x","article-title":"Novel SLC9A6 mutations in two families with Christianson syndrome.","volume":"83","author":"Riess","year":"2013","journal-title":"Clin Genet"},{"key":"R5-20250524","doi-asserted-by":"crossref","first-page":"2775","DOI":"10.1002\/ajmg.a.33093","article-title":"Natural history of Christianson syndrome.","volume":"152A","author":"Schroer","year":"2010","journal-title":"Am J Med Genet A"},{"key":"R6-20250524","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1002\/bdr2.1200","article-title":"Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.","volume":"110","author":"Weitensteiner","year":"2018","journal-title":"Birth Defects Res"},{"key":"R7-20250524","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.eplepsyres.2014.02.009","article-title":"A novel mutation in the endosomal Na+\/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).","volume":"108","author":"Zanni","year":"2014","journal-title":"Epilepsy Res"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T00:03:09Z","timestamp":1748131389000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,20]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000358","relation":{},"ISSN":["0962-8827"],"issn-type":[{"type":"print","value":"0962-8827"}],"subject":[],"published":{"date-parts":[[2020,11,20]]}}}