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- Title
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.
- Authors
Posey, Jennifer E.; Rosenfeld, Jill A.; Jiang, Yunyun; Darilek, Sandra A.; Hansen, Adam W.; Khayat, Michael M.; Hanchard, Neil; Belmont, John W.; Eldomery, Mohammad K.; Akdemir, Zeynep C.; Chen, Shan; Lee, Yi‐Chien; Lee, Brendan; Muzny, Donna M.; Gibbs, Richard A.; Moretti, Paolo; Wang, Xia; Leduc, Magalie S.; Walkiewicz, Magdalena A.; Bi, Weimin
- Abstract
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.
- Subjects
PEOPLE with intellectual disabilities; WOMEN; DEVELOPMENTAL delay; CONGENITAL heart disease; MITOCHONDRIAL DNA
- Publication
Annals of Clinical & Translational Neurology, 2018, Vol 5, Issue 10, p1277
- ISSN
2328-9503
- Publication type
Article
- DOI
10.1002/acn3.622