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Wang, Xia; Posey, Jennifer E.; Rosenfeld, Jill A.; Bacino, Carlos A.; Scaglia, Fernando; Immken, LaDonna; Harris, Jill M.; Hickey, Scott E.; Mosher, Theresa M.; Slavotinek, Anne; Zhang, Jing; Beuten, Joke; Leduc, Magalie S.; He, Weimin; Vetrini, Francesco; Walkiewicz, Magdalena A.; Bi, Weimin; Xiao, Rui; Liu, Pengfei; Shao, Yunru; Gezdirici, Alper; Gulec, Elif Y.; Jiang, Yunyun; Darilek, Sandra A.; [...]

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

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  • Media type: E-Article
  • Title: Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
  • Contributor: Wang, Xia; Posey, Jennifer E.; Rosenfeld, Jill A.; Bacino, Carlos A.; Scaglia, Fernando; Immken, LaDonna; Harris, Jill M.; Hickey, Scott E.; Mosher, Theresa M.; Slavotinek, Anne; Zhang, Jing; Beuten, Joke; Leduc, Magalie S.; He, Weimin; Vetrini, Francesco; Walkiewicz, Magdalena A.; Bi, Weimin; Xiao, Rui; Liu, Pengfei; Shao, Yunru; Gezdirici, Alper; Gulec, Elif Y.; Jiang, Yunyun; Darilek, Sandra A.; [...]
  • imprint: Wiley, 2018
  • Published in: Annals of Clinical and Translational Neurology
  • Language: English
  • DOI: 10.1002/acn3.622
  • ISSN: 2328-9503
  • Keywords: Neurology (clinical) ; General Neuroscience
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>De <jats:italic>novo</jats:italic> variants in <jats:italic><jats:styled-content style="fixed-case">DDX</jats:styled-content>3X</jats:italic> account for 1–3% of unexplained intellectual disability (<jats:styled-content style="fixed-case">ID</jats:styled-content>) cases and are amongst the most common causes of <jats:styled-content style="fixed-case">ID</jats:styled-content> especially in females. Forty‐seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique <jats:italic><jats:styled-content style="fixed-case">DDX</jats:styled-content>3X</jats:italic> variants, including 30 postnatal individuals with complex clinical presentations of developmental delay or <jats:styled-content style="fixed-case">ID</jats:styled-content>, and one fetus with abnormal ultrasound findings. Rare or novel phenotypes observed include respiratory problems, congenital heart disease, skeletal muscle mitochondrial <jats:styled-content style="fixed-case">DNA</jats:styled-content> depletion, and late‐onset neurologic decline. Our findings expand the spectrum of <jats:styled-content style="fixed-case">DNA</jats:styled-content> variants and phenotypes associated with <jats:italic><jats:styled-content style="fixed-case">DDX</jats:styled-content>3X</jats:italic> disorders.</jats:p>
  • Access State: Open Access