Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Xia WangJennifer E PoseyJill Anne RosenfeldCarlos A BacinoFernando ScagliaLaDonna ImmkenJill M HarrisScott E HickeyTheresa M MosherAnne SlavotinekJing ZhangJoke BeutenMagalie S LeducWeimin HeFrancesco VetriniMagdalena A WalkiewiczWeimin BiRui XiaoPengfei LiuYunru ShaoAlper GezdiriciElif Y GulecYunyun JiangSandra A DarilekAdam W HansenMichael M KhayatDavut PehlivanJuliette PiardDonna M MuznyNeil HanchardJohn W BelmontLionel Van MaldergemRichard A GibbsMohammad K EldomeryZeynep C AkdemirAdekunle M AdesinaShan ChenYi-Chien Leenull nullBrendan LeeJames R LupskiChristine M EngFan XiaYaping YangBrett H GrahamPaolo MorettiPublished in: Annals of clinical and translational neurology (2018)
De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique DDX3X variants, including 30 postnatal individuals with complex clinical presentations of developmental delay or ID, and one fetus with abnormal ultrasound findings. Rare or novel phenotypes observed include respiratory problems, congenital heart disease, skeletal muscle mitochondrial DNA depletion, and late-onset neurologic decline. Our findings expand the spectrum of DNA variants and phenotypes associated with DDX3X disorders.
Keyphrases
- intellectual disability
- copy number
- mitochondrial dna
- late onset
- autism spectrum disorder
- congenital heart disease
- skeletal muscle
- end stage renal disease
- early onset
- genome wide
- ejection fraction
- newly diagnosed
- magnetic resonance imaging
- mental health
- chronic kidney disease
- dna methylation
- preterm infants
- prognostic factors
- computed tomography
- type diabetes
- contrast enhanced ultrasound