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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.
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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