Journal article

Expansion of phenotype of DDX3X syndrome: six new cases

Bryony Beal, Ian Hayes, Julie McGaughran, David J Amor, Christina Miteff, Victoria Jackson, Olivia van Reyk, Gopinath Subramanian, Michael S Hildebrand, Angela T Morgan, Himanshu Goel



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 iden..

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Awarded by National Health and Medical Research Council (NHMRC) Centre of Research Excellence

Awarded by NHMRC Career Development Fellowship

Awarded by NHMRC Practitioner Fellowship

Funding Acknowledgements

Angela Morgan, Michael Hildebrand, Olivia van Reyk and Victoria Jackson and David Amor are funded by National Health and Medical Research Council (NHMRC) Centre of Research Excellence (1116976) and Project (1127144) Grants. MH is funded by an NHMRC Career Development Fellowship (1063799), AM is funded by an NHMRC Practitioner Fellowship (1105008).