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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
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,...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186933/ https://www.ncbi.nlm.nih.gov/pubmed/30349862 http://dx.doi.org/10.1002/acn3.622 |
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author | 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. Hansen, Adam W. Khayat, Michael M. Pehlivan, Davut Piard, Juliette Muzny, Donna M. Hanchard, Neil Belmont, John W. Van Maldergem, Lionel Gibbs, Richard A. Eldomery, Mohammad K. Akdemir, Zeynep C. Adesina, Adekunle M. Chen, Shan Lee, Yi‐Chien Lee, Brendan Lupski, James R. Eng, Christine M. Xia, Fan Yang, Yaping Graham, Brett H. Moretti, Paolo |
author_facet | 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. Hansen, Adam W. Khayat, Michael M. Pehlivan, Davut Piard, Juliette Muzny, Donna M. Hanchard, Neil Belmont, John W. Van Maldergem, Lionel Gibbs, Richard A. Eldomery, Mohammad K. Akdemir, Zeynep C. Adesina, Adekunle M. Chen, Shan Lee, Yi‐Chien Lee, Brendan Lupski, James R. Eng, Christine M. Xia, Fan Yang, Yaping Graham, Brett H. Moretti, Paolo |
author_sort | Wang, Xia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6186933 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-61869332018-10-22 Phenotypic expansion in DDX3X – a common cause of intellectual disability in females 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. Hansen, Adam W. Khayat, Michael M. Pehlivan, Davut Piard, Juliette Muzny, Donna M. Hanchard, Neil Belmont, John W. Van Maldergem, Lionel Gibbs, Richard A. Eldomery, Mohammad K. Akdemir, Zeynep C. Adesina, Adekunle M. Chen, Shan Lee, Yi‐Chien Lee, Brendan Lupski, James R. Eng, Christine M. Xia, Fan Yang, Yaping Graham, Brett H. Moretti, Paolo Ann Clin Transl Neurol Brief Communication 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. John Wiley and Sons Inc. 2018-09-15 /pmc/articles/PMC6186933/ /pubmed/30349862 http://dx.doi.org/10.1002/acn3.622 Text en © 2018 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Brief Communication 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. Hansen, Adam W. Khayat, Michael M. Pehlivan, Davut Piard, Juliette Muzny, Donna M. Hanchard, Neil Belmont, John W. Van Maldergem, Lionel Gibbs, Richard A. Eldomery, Mohammad K. Akdemir, Zeynep C. Adesina, Adekunle M. Chen, Shan Lee, Yi‐Chien Lee, Brendan Lupski, James R. Eng, Christine M. Xia, Fan Yang, Yaping Graham, Brett H. Moretti, Paolo Phenotypic expansion in DDX3X – a common cause of intellectual disability in females |
title | Phenotypic expansion in DDX3X – a common cause of intellectual disability in females |
title_full | Phenotypic expansion in DDX3X – a common cause of intellectual disability in females |
title_fullStr | Phenotypic expansion in DDX3X – a common cause of intellectual disability in females |
title_full_unstemmed | Phenotypic expansion in DDX3X – a common cause of intellectual disability in females |
title_short | Phenotypic expansion in DDX3X – a common cause of intellectual disability in females |
title_sort | phenotypic expansion in ddx3x – a common cause of intellectual disability in females |
topic | Brief Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186933/ https://www.ncbi.nlm.nih.gov/pubmed/30349862 http://dx.doi.org/10.1002/acn3.622 |
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