{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:53:49Z","timestamp":1790376829342,"version":"4.1.0"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:p>Pathogenic variants in <jats:italic toggle=\"yes\">DDX3X<\/jats:italic> have recently been identified to be a relatively common cause of intellectual disability in females. In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>, and the identification of potential germline mosaicism. Consistent features between this cohort and previously described cases include developmental delay or intellectual disability, growth disturbance and movement disorder. Common facial dysmorphism within the cohort include short palpebral fissures, micrognathia, bulbous nasal tip, protruding ears, high arched palate, thin upper vermillion and smooth philtrum. Novel clinical features identified from this cohort include facial dysmorphisms, perinatal complications, valgus feet deformity, lipoatrophy, dystonic episodes, and cutaneous mastocytosis. This case series attempts to expand the phenotype of the <jats:italic toggle=\"yes\">DDX3X<\/jats:italic> syndrome; however, it remains heterogeneous. Description of further cases is required to more accurately identify the significance of novel phenotypes within this cohort.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000289","type":"journal-article","created":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T22:17:20Z","timestamp":1562883440000},"page":"169-174","source":"Crossref","is-referenced-by-count":32,"title":["Expansion of phenotype of DDX3X syndrome: six new cases"],"prefix":"10.1097","volume":"28","author":[{"given":"Bryony","family":"Beal","sequence":"first","affiliation":[{"name":"University of Newcastle, Callaghan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Hayes","sequence":"additional","affiliation":[{"name":"Genetic Health Service New Zealand-Northern Hub, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"McGaughran","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland, Brisbane"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Amor","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital"},{"name":"University of Melbourne, Parkville"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Miteff","sequence":"additional","affiliation":[{"name":"John Hunter Children\u2019s Hospital, New Lambton Heights"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Jackson","sequence":"additional","affiliation":[{"name":"Walter and Elisa Hall Institute, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"van Reyk","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gopinath","family":"Subramanian","sequence":"additional","affiliation":[{"name":"John Hunter Children\u2019s Hospital, New Lambton Heights"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Hildebrand","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre, Austin Health"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela T.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital"},{"name":"University of Melbourne, Parkville"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[{"name":"University of Newcastle, Callaghan"},{"name":"Hunter Genetics, Waratah, NSW"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20230913","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1086\/507565","article-title":"X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.","volume":"79","author":"Amos-Landgraf","year":"2006","journal-title":"Am J Hum Genet"},{"key":"R2-20230913","doi-asserted-by":"crossref","first-page":"93","DOI":"10.2147\/TACG.S165799","article-title":"Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.","volume":"11","author":"Carneiro","year":"2018","journal-title":"Appl Clin Genet"},{"key":"R3-20230913","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/nature03479","article-title":"X-inactivation profile reveals extensive variability in X-linked gene expression in females.","volume":"434","author":"Carrel","year":"2005","journal-title":"Nature"},{"key":"R4-20230913","first-page":"2905","article-title":"Targeted inactivation of murine ddx3x: essential roles of ddx3x in placentation and embryogenesis.","volume":"25","author":"Chen","year":"2016","journal-title":"Hum Mol Genet"},{"key":"R5-20230913","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1002\/ajmg.a.38164","article-title":"DDX3X mutations in two girls with a phenotype overlapping toriello-carey syndrome.","volume":"173","author":"Dikow","year":"2017","journal-title":"Am J Med Genet A"},{"key":"R6-20230913","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1002\/humu.23012","article-title":"Identification of intellectual disability genes in female patients with a skewed X-inactivation pattern.","volume":"37","author":"Fieremans","year":"2016","journal-title":"Hum Mutat"},{"key":"R7-20230913","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/s40246-018-0141-y","article-title":"A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.","volume":"12","author":"Kellaris","year":"2018","journal-title":"Hum Genomics"},{"key":"R8-20230913","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1111\/j.1749-6632.1997.tb52164.x","article-title":"Karyotype-phenotype correlation in females with \u00d7 chromosome abnormalities.","volume":"816","author":"Kosmaidou-Aravidou","year":"2006","journal-title":"Ann N Y Acad Sci"},{"key":"R10-20230913","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2015.07.004","article-title":"Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling.","volume":"97","author":"Snijders Blok","year":"2015","journal-title":"Am J Hum Genet"},{"key":"R11-20230913","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1002\/acn3.622","article-title":"Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.","volume":"5","author":"Wang","year":"2018","journal-title":"Ann Clin Transl Neurol"},{"key":"R12-20230913","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.neuron.2013.10.051","article-title":"Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and disease.","volume":"81","author":"Wu","year":"2014","journal-title":"Neuron"},{"key":"R13-20230913","doi-asserted-by":"crossref","first-page":"2048987","DOI":"10.1155\/2016\/2048987","article-title":"Wnt-\u03b2-catenin signaling promotes the maturation of mast cells.","volume":"2016","author":"Yamaguchi","year":"2016","journal-title":"Biomed Res Int"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000289","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T21:04:54Z","timestamp":1694639094000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000289"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000289","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2019,10]]}}}