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Title: | Expansion of phenotype of DDX3X syndrome: six new cases. | Austin Authors: | Beal, Bryony;Hayes, Ian;McGaughran, Julie;Amor, David J;Miteff, Christina;Jackson, Victoria;van Reyk, Olivia;Subramanian, Gopinath;Hildebrand, Michael S ;Morgan, Angela T;Goel, Himanshu | Affiliation: | University of Newcastle, Callaghan Walter and Elisa Hall Institute, Melbourne, Australia Genetic Health Service New Zealand-Northern Hub, Auckland, New Zealand Genetic Health Queensland, Brisbane Murdoch Children's Research Institute, Royal Children's Hospital John Hunter Children's Hospital, New Lambton Heights Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia University of Melbourne, Parkville University of Newcastle, Callaghan Hunter Genetics, Waratah, NSW |
Issue Date: | Oct-2019 | Date: | 2019-07-03 | Publication information: | Clinical dysmorphology 2019; 28(4): 169-174 | Abstract: | Pathogenic variants in DDX3X 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 DDX3X, 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 DDX3X syndrome; however, it remains heterogeneous. Description of further cases is required to more accurately identify the significance of novel phenotypes within this cohort. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/21502 | DOI: | 10.1097/MCD.0000000000000289 | ORCID: | 0000-0003-2739-0515 | Journal: | Clinical dysmorphology | PubMed URL: | 31274575 | Type: | Journal Article |
Appears in Collections: | Journal articles |
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