期刊
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
卷 5, 期 10, 页码 1277-1285出版社
WILEY
DOI: 10.1002/acn3.622
关键词
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资金
- NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director [U01HG007709]
- National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute (NHLBI) [UM1 HG006542]
- National Human Genome Research Institute [K08 HG008986]
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.
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