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

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.

SUBMITTER: Wang X 

PROVIDER: S-EPMC6186933 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

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Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in females.

Wang Xia X   Posey Jennifer E JE   Rosenfeld Jill A JA   Bacino Carlos A CA   Scaglia Fernando F   Immken LaDonna L   Harris Jill M JM   Hickey Scott E SE   Mosher Theresa M TM   Slavotinek Anne A   Zhang Jing J   Beuten Joke J   Leduc Magalie S MS   He Weimin W   Vetrini Francesco F   Walkiewicz Magdalena A MA   Bi Weimin W   Xiao Rui R   Liu Pengfei P   Shao Yunru Y   Gezdirici Alper A   Gulec Elif Y EY   Jiang Yunyun Y   Darilek Sandra A SA   Hansen Adam W AW   Khayat Michael M MM   Pehlivan Davut D   Piard Juliette J   Muzny Donna M DM   Hanchard Neil N   Belmont John W JW   Van Maldergem Lionel L   Gibbs Richard A RA   Eldomery Mohammad K MK   Akdemir Zeynep C ZC   Adesina Adekunle M AM   Chen Shan S   Lee Yi-Chien YC   Lee Brendan B   Lupski James R JR   Eng Christine M CM   Xia Fan F   Yang Yaping Y   Graham Brett H BH   Moretti Paolo P  

Annals of clinical and translational neurology 20180915 10

De <i>novo</i> variants in <i>DDX3X</i> 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 <i>DDX3X</i> 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 obse  ...[more]

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