Phenotypic expansion in <i> <scp>DDX</scp> 3X </i> – a common cause of intellectual disability in females

Xia Wang(Baylor College of Medicine), Jennifer E. Posey(Baylor College of Medicine), Jill A. Rosenfeld(Baylor College of Medicine), Carlos A. Bacino(Baylor College of Medicine), Fernando Scaglia(Baylor College of Medicine), LaDonna Immken(Dell Children's Medical Center of Central Texas), Jill M. Harris(Dell Children's Medical Center of Central Texas), Scott E. Hickey(Nationwide Children's Hospital), Theresa Mihalic Mosher(Nationwide Children's Hospital), Anne Slavotinek(University of California, San Francisco), Jing Zhang(Baylor Genetics), Joke Beuten(Baylor Genetics), Magalie S. Leduc(Baylor College of Medicine), Weimin He(Baylor Genetics), Francesco Vetrini(Baylor Genetics), Magdalena Walkiewicz(Baylor College of Medicine), Weimin Bi(Baylor College of Medicine), Rui Xiao(Baylor College of Medicine), Pengfei Liu(Baylor College of Medicine), Yunru Shao(Baylor College of Medicine), Alper Gezdirici(İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi), Elif Yılmaz Güleç(İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi), Yunyun Jiang(Baylor College of Medicine), Sandra Darilek(Baylor College of Medicine), Adam Hansen(Baylor College of Medicine), Michael M. Khayat(Baylor College of Medicine), Davut Pehli̇van(Baylor College of Medicine), Juliette Piard(Université de franche-comté), Donna M. Muzny(Baylor College of Medicine), Neil A. Hanchard(Baylor College of Medicine), John W. Belmont(Baylor College of Medicine), Lionel Van Maldergem(Université de franche-comté), Richard A. Gibbs(Baylor College of Medicine), Mohammad K. Eldomery(Baylor College of Medicine), Zeynep Coban‐Akdemir(Baylor College of Medicine), Adekunle M. Adesina(Baylor College of Medicine), Shan Chen(Baylor College of Medicine), Yi‐Chien Lee(Baylor College of Medicine), Undiagnosed Diseases Network(Baylor College of Medicine), Brendan Lee(Baylor College of Medicine), James R. Lupski(Baylor College of Medicine), Christine M. Eng(Baylor College of Medicine), Fan Xia(Baylor College of Medicine), Yaping Yang(Baylor College of Medicine), Brett H. Graham(Michael E. DeBakey VA Medical Center), Paolo Moretti(Michael E. DeBakey VA Medical Center)
Annals of Clinical and Translational Neurology
September 15, 2018
10.1002/acn3.622
Cited by 90Open Access
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Abstract

Abstract De novo variants in DDX 3X 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 DDX 3X 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 DDX 3X disorders.

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