Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

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TitrePhenotypic expansion in DDX3X - a common cause of intellectual disability in females
Type de publicationJournal Article
Year of Publication2018
AuteursWang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken LD, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee Y-C, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P, Network UDis
JournalANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Volume5
Pagination1277-1285
Date PublishedOCT
Type of ArticleArticle
ISSN2328-9503
Résumé

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.

DOI10.1002/acn3.622