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

Xia Wang, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa M. Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena A. Walkiewicz, Weimin Bi, Rui Xiao, Yunru Shao, Alper Gezdirici, Yunyun Jiang, Adam W. Hansen, Davut Pehlivan, Juliette Piard, Donna M. Muzny, Neil Hanchard, John W. Belmont, Lionel van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep C. Akdemir, Tamar Harel, Jennifer E. Posey, Adekunle M. Adesina, Shan Chen, members of the UDN, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti
doi: https://doi.org/10.1101/283598
Xia Wang
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
2Baylor Genetics, Houston, TX
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Jill A. Rosenfeld
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Carlos A. Bacino
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
3Texas Children’s Hospital, Houston, TX
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Fernando Scaglia
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
3Texas Children’s Hospital, Houston, TX
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LaDonna Immken
5Specially for Children, Austin, TX
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Jill M. Harris
5Specially for Children, Austin, TX
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Scott E. Hickey
6Clinical Pediatrics, the Ohio State University, Columbus, OH
7Division of Molecular & Human Genetics, Nationwide Children’s Hospital, Columbus, OH
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Theresa M. Mosher
7Division of Molecular & Human Genetics, Nationwide Children’s Hospital, Columbus, OH
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Anne Slavotinek
8Clinical Pediatrics, University of California, San Francisco, CA
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Jing Zhang
2Baylor Genetics, Houston, TX
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Joke Beuten
2Baylor Genetics, Houston, TX
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Magalie S. Leduc
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
2Baylor Genetics, Houston, TX
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Weimin He
2Baylor Genetics, Houston, TX
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Francesco Vetrini
2Baylor Genetics, Houston, TX
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Magdalena A. Walkiewicz
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
2Baylor Genetics, Houston, TX
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Weimin Bi
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
2Baylor Genetics, Houston, TX
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Rui Xiao
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
2Baylor Genetics, Houston, TX
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Yunru Shao
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
3Texas Children’s Hospital, Houston, TX
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Alper Gezdirici
9Kanuni Sultan Suleyman Training and Research Hospital, Instanbul, Turkey
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Yunyun Jiang
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Adam W. Hansen
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Davut Pehlivan
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Juliette Piard
11Centre de Génétique Humaine, CHU Saint Jacques, Besançon, France
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Donna M. Muzny
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
10Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX
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Neil Hanchard
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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John W. Belmont
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Lionel van Maldergem
11Centre de Génétique Humaine, CHU Saint Jacques, Besançon, France
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Richard A. Gibbs
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
10Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX
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Mohammad K. Eldomery
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Zeynep C. Akdemir
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Tamar Harel
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Jennifer E. Posey
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Adekunle M. Adesina
3Texas Children’s Hospital, Houston, TX
12Pathology, Baylor College of Medicine, Houston, TX
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Shan Chen
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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Brendan Lee
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
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James R. Lupski
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
3Texas Children’s Hospital, Houston, TX
10Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX
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Christine M. Eng
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
2Baylor Genetics, Houston, TX
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Fan Xia
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
2Baylor Genetics, Houston, TX
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Yaping Yang
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
2Baylor Genetics, Houston, TX
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Brett H. Graham
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
3Texas Children’s Hospital, Houston, TX
13Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN
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  • For correspondence: paolo.moretti@hsc.utah.edu bregraha@iu.edu
Paolo Moretti
1Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
4Neurology, Baylor College of Medicine, and Michael E. DeBakey VA Medical Center, Houston, TX
14Neurology, University of Utah and George E. Wahlen VA Medical Center, Salt Lake City, UT
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  • For correspondence: paolo.moretti@hsc.utah.edu bregraha@iu.edu
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Abstract

De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID), one of the most common causes of ID, in females. Forty-seven patients (44 females, 3 males) have been described. We identified 29 additional individuals carrying 27 unique DDX3X variants in the setting of complex clinical presentations including developmental delay or ID. In addition to previously reported manifestations, rare or novel phenotypes were identified including 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.

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Posted March 18, 2018.
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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
Xia Wang, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa M. Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena A. Walkiewicz, Weimin Bi, Rui Xiao, Yunru Shao, Alper Gezdirici, Yunyun Jiang, Adam W. Hansen, Davut Pehlivan, Juliette Piard, Donna M. Muzny, Neil Hanchard, John W. Belmont, Lionel van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep C. Akdemir, Tamar Harel, Jennifer E. Posey, Adekunle M. Adesina, Shan Chen, members of the UDN, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti
bioRxiv 283598; doi: https://doi.org/10.1101/283598
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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
Xia Wang, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa M. Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena A. Walkiewicz, Weimin Bi, Rui Xiao, Yunru Shao, Alper Gezdirici, Yunyun Jiang, Adam W. Hansen, Davut Pehlivan, Juliette Piard, Donna M. Muzny, Neil Hanchard, John W. Belmont, Lionel van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep C. Akdemir, Tamar Harel, Jennifer E. Posey, Adekunle M. Adesina, Shan Chen, members of the UDN, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti
bioRxiv 283598; doi: https://doi.org/10.1101/283598

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