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Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 patients and >2,867 controls. We report 91 genes with an excess of de novo mutations or private disruptive mutation...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374041/ https://www.ncbi.nlm.nih.gov/pubmed/28191889 http://dx.doi.org/10.1038/ng.3792 |
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| author | Stessman, Holly A. F. Xiong, Bo Coe, Bradley P. Wang, Tianyun Hoekzema, Kendra Fenckova, Michaela Kvarnung, Malin Gerdts, Jennifer Trinh, Sandy Cosemans, Nele Vives, Laura Lin, Janice Turner, Tychele N. Santen, Gijs Ruivenkamp, Claudia Kriek, Marjolein van Haeringen, Arie Aten, Emmelien Friend, Kathryn Liebelt, Jan Barnett, Christopher Haan, Eric Shaw, Marie Gecz, Jozef Anderlid, Britt-Marie Nordgren, Ann Lindstrand, Anna Schwartz, Charles Kooy, R. Frank Vandeweyer, Geert Helsmoortel, Celine Romano, Corrado Alberti, Antonino Vinci, Mirella Avola, Emanuela Giusto, Stefania Courchesne, Eric Pramparo, Tiziano Pierce, Karen Nalabolu, Srinivasa Amaral, David Scheffer, Ingrid E. Delatycki, Martin B. Lockhart, Paul J. Hormozdiari, Fereydoun Harich, Benjamin Castells-Nobau, Anna Xia, Kun Peeters, Hilde Nordenskjöld, Magnus Schenck, Annette Bernier, Raphael A. Eichler, Evan E. |
| author_facet | Stessman, Holly A. F. Xiong, Bo Coe, Bradley P. Wang, Tianyun Hoekzema, Kendra Fenckova, Michaela Kvarnung, Malin Gerdts, Jennifer Trinh, Sandy Cosemans, Nele Vives, Laura Lin, Janice Turner, Tychele N. Santen, Gijs Ruivenkamp, Claudia Kriek, Marjolein van Haeringen, Arie Aten, Emmelien Friend, Kathryn Liebelt, Jan Barnett, Christopher Haan, Eric Shaw, Marie Gecz, Jozef Anderlid, Britt-Marie Nordgren, Ann Lindstrand, Anna Schwartz, Charles Kooy, R. Frank Vandeweyer, Geert Helsmoortel, Celine Romano, Corrado Alberti, Antonino Vinci, Mirella Avola, Emanuela Giusto, Stefania Courchesne, Eric Pramparo, Tiziano Pierce, Karen Nalabolu, Srinivasa Amaral, David Scheffer, Ingrid E. Delatycki, Martin B. Lockhart, Paul J. Hormozdiari, Fereydoun Harich, Benjamin Castells-Nobau, Anna Xia, Kun Peeters, Hilde Nordenskjöld, Magnus Schenck, Annette Bernier, Raphael A. Eichler, Evan E. |
| author_sort | Stessman, Holly A. F. |
| collection | PubMed |
| description | Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 patients and >2,867 controls. We report 91 genes with an excess of de novo mutations or private disruptive mutations in 5.7% of patients, including 38 novel NDD genes. Drosophila functional assays of a subset bolster their involvement in NDDs. We identify 25 genes that show a bias for autism versus intellectual disability and highlight a network associated with high-functioning autism (FSIQ>100). Clinical follow-up for NAA15, KMT5B, and ASH1L reveals novel syndromic and non-syndromic forms of disease. |
| format | Online Article Text |
| id | pubmed-5374041 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-53740412017-08-13 Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases Stessman, Holly A. F. Xiong, Bo Coe, Bradley P. Wang, Tianyun Hoekzema, Kendra Fenckova, Michaela Kvarnung, Malin Gerdts, Jennifer Trinh, Sandy Cosemans, Nele Vives, Laura Lin, Janice Turner, Tychele N. Santen, Gijs Ruivenkamp, Claudia Kriek, Marjolein van Haeringen, Arie Aten, Emmelien Friend, Kathryn Liebelt, Jan Barnett, Christopher Haan, Eric Shaw, Marie Gecz, Jozef Anderlid, Britt-Marie Nordgren, Ann Lindstrand, Anna Schwartz, Charles Kooy, R. Frank Vandeweyer, Geert Helsmoortel, Celine Romano, Corrado Alberti, Antonino Vinci, Mirella Avola, Emanuela Giusto, Stefania Courchesne, Eric Pramparo, Tiziano Pierce, Karen Nalabolu, Srinivasa Amaral, David Scheffer, Ingrid E. Delatycki, Martin B. Lockhart, Paul J. Hormozdiari, Fereydoun Harich, Benjamin Castells-Nobau, Anna Xia, Kun Peeters, Hilde Nordenskjöld, Magnus Schenck, Annette Bernier, Raphael A. Eichler, Evan E. Nat Genet Article Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 patients and >2,867 controls. We report 91 genes with an excess of de novo mutations or private disruptive mutations in 5.7% of patients, including 38 novel NDD genes. Drosophila functional assays of a subset bolster their involvement in NDDs. We identify 25 genes that show a bias for autism versus intellectual disability and highlight a network associated with high-functioning autism (FSIQ>100). Clinical follow-up for NAA15, KMT5B, and ASH1L reveals novel syndromic and non-syndromic forms of disease. 2017-02-13 2017-04 /pmc/articles/PMC5374041/ /pubmed/28191889 http://dx.doi.org/10.1038/ng.3792 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Stessman, Holly A. F. Xiong, Bo Coe, Bradley P. Wang, Tianyun Hoekzema, Kendra Fenckova, Michaela Kvarnung, Malin Gerdts, Jennifer Trinh, Sandy Cosemans, Nele Vives, Laura Lin, Janice Turner, Tychele N. Santen, Gijs Ruivenkamp, Claudia Kriek, Marjolein van Haeringen, Arie Aten, Emmelien Friend, Kathryn Liebelt, Jan Barnett, Christopher Haan, Eric Shaw, Marie Gecz, Jozef Anderlid, Britt-Marie Nordgren, Ann Lindstrand, Anna Schwartz, Charles Kooy, R. Frank Vandeweyer, Geert Helsmoortel, Celine Romano, Corrado Alberti, Antonino Vinci, Mirella Avola, Emanuela Giusto, Stefania Courchesne, Eric Pramparo, Tiziano Pierce, Karen Nalabolu, Srinivasa Amaral, David Scheffer, Ingrid E. Delatycki, Martin B. Lockhart, Paul J. Hormozdiari, Fereydoun Harich, Benjamin Castells-Nobau, Anna Xia, Kun Peeters, Hilde Nordenskjöld, Magnus Schenck, Annette Bernier, Raphael A. Eichler, Evan E. Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases |
| title | Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases |
| title_full | Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases |
| title_fullStr | Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases |
| title_full_unstemmed | Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases |
| title_short | Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases |
| title_sort | targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374041/ https://www.ncbi.nlm.nih.gov/pubmed/28191889 http://dx.doi.org/10.1038/ng.3792 |
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