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Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence of the vagina and uterus. We conducted genome-wide SNP analyses and exome sequencing to detect the causes of MRKH syndrome. We identified de novo variants of MYCBP2, NAV3, and PTPN3 in three families and a variant...
| Autores principales: | , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160444/ https://www.ncbi.nlm.nih.gov/pubmed/30302266 http://dx.doi.org/10.1038/s41439-018-0028-4 |
| _version_ | 1783358766524137472 |
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| author | Takahashi, Kazumi Hayano, Takahide Sugimoto, Ryota Kashiwagi, Hirofumi Shinoda, Mari Nishijima, Yoshihiro Suzuki, Takahiro Suzuki, Shingo Ohnuki, Yuko Kondo, Akane Shiina, Takashi Nakaoka, Hirofumi Inoue, Ituro Izumi, Shun-ichiro |
| author_facet | Takahashi, Kazumi Hayano, Takahide Sugimoto, Ryota Kashiwagi, Hirofumi Shinoda, Mari Nishijima, Yoshihiro Suzuki, Takahiro Suzuki, Shingo Ohnuki, Yuko Kondo, Akane Shiina, Takashi Nakaoka, Hirofumi Inoue, Ituro Izumi, Shun-ichiro |
| author_sort | Takahashi, Kazumi |
| collection | PubMed |
| description | Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence of the vagina and uterus. We conducted genome-wide SNP analyses and exome sequencing to detect the causes of MRKH syndrome. We identified de novo variants of MYCBP2, NAV3, and PTPN3 in three families and a variant of MYCBP2 in a sporadic case. Here, we demonstrated the partial genetic makeup of Japanese MRKH syndrome. |
| format | Online Article Text |
| id | pubmed-6160444 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-61604442018-10-09 Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome Takahashi, Kazumi Hayano, Takahide Sugimoto, Ryota Kashiwagi, Hirofumi Shinoda, Mari Nishijima, Yoshihiro Suzuki, Takahiro Suzuki, Shingo Ohnuki, Yuko Kondo, Akane Shiina, Takashi Nakaoka, Hirofumi Inoue, Ituro Izumi, Shun-ichiro Hum Genome Var Data Report Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence of the vagina and uterus. We conducted genome-wide SNP analyses and exome sequencing to detect the causes of MRKH syndrome. We identified de novo variants of MYCBP2, NAV3, and PTPN3 in three families and a variant of MYCBP2 in a sporadic case. Here, we demonstrated the partial genetic makeup of Japanese MRKH syndrome. Nature Publishing Group UK 2018-09-27 /pmc/articles/PMC6160444/ /pubmed/30302266 http://dx.doi.org/10.1038/s41439-018-0028-4 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Data Report Takahashi, Kazumi Hayano, Takahide Sugimoto, Ryota Kashiwagi, Hirofumi Shinoda, Mari Nishijima, Yoshihiro Suzuki, Takahiro Suzuki, Shingo Ohnuki, Yuko Kondo, Akane Shiina, Takashi Nakaoka, Hirofumi Inoue, Ituro Izumi, Shun-ichiro Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome |
| title | Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome |
| title_full | Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome |
| title_fullStr | Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome |
| title_full_unstemmed | Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome |
| title_short | Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome |
| title_sort | exome and copy number variation analyses of mayer–rokitansky–küster– hauser syndrome |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160444/ https://www.ncbi.nlm.nih.gov/pubmed/30302266 http://dx.doi.org/10.1038/s41439-018-0028-4 |
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