Expansion of phenotype of DDX3X syndrome: six new cases. Issue 4 (October 2019)

• Record Type: Journal Article
• 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
• Is Part Of: Clinical dysmorphology. Volume 28:Issue 4(2019:Oct.)
• Publication Date: 2019-10
• Subjects: DDX3X -- DDX3X syndrome -- intellectual disability -- whole exome sequencing; Abnormalities, Human -- Periodicals; Genetic disorders -- Periodicals; Abnormalities -- periodicals; Abnormalities, Human; Periodicals; 616.042
• DOI: 10.1097/MCD.0000000000000289
• Languages: English
• ISSNs: 0962-8827

Abstract

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. Abstract : Supplemental Digital Content is available in the text.