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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
Source :
Annals of Clinical & Translational Neurology. Oct2018, Vol. 5 Issue 10, p1277-1285. 9p.
Publication Year :
2018

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
23289503
Volume :
5
Issue :
10
Database :
Academic Search Index
Journal :
Annals of Clinical & Translational Neurology
Publication Type :
Academic Journal
Accession number :
132394540
Full Text :
https://doi.org/10.1002/acn3.622