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Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19–42 of TSC2 and exons 2–46...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363882/ https://www.ncbi.nlm.nih.gov/pubmed/32695431 http://dx.doi.org/10.1038/s41439-020-0108-0 |
| _version_ | 1783559729396580352 |
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| author | Osumi, Keita Suga, Kenichi Ono, Akemi Goji, Aya Mori, Tatsuo Kinoshita, Yukiko Sugano, Mikio Toda, Yoshihiro Urushihara, Maki Nakagawa, Ryuji Hayabuchi, Yasunobu Imoto, Issei Kagami, Shoji |
| author_facet | Osumi, Keita Suga, Kenichi Ono, Akemi Goji, Aya Mori, Tatsuo Kinoshita, Yukiko Sugano, Mikio Toda, Yoshihiro Urushihara, Maki Nakagawa, Ryuji Hayabuchi, Yasunobu Imoto, Issei Kagami, Shoji |
| author_sort | Osumi, Keita |
| collection | PubMed |
| description | A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19–42 of TSC2 and exons 2–46 of PKD1. Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease. |
| format | Online Article Text |
| id | pubmed-7363882 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-73638822020-07-20 Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome Osumi, Keita Suga, Kenichi Ono, Akemi Goji, Aya Mori, Tatsuo Kinoshita, Yukiko Sugano, Mikio Toda, Yoshihiro Urushihara, Maki Nakagawa, Ryuji Hayabuchi, Yasunobu Imoto, Issei Kagami, Shoji Hum Genome Var Data Report A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19–42 of TSC2 and exons 2–46 of PKD1. Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease. Nature Publishing Group UK 2020-07-16 /pmc/articles/PMC7363882/ /pubmed/32695431 http://dx.doi.org/10.1038/s41439-020-0108-0 Text en © The Author(s) 2020 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 Osumi, Keita Suga, Kenichi Ono, Akemi Goji, Aya Mori, Tatsuo Kinoshita, Yukiko Sugano, Mikio Toda, Yoshihiro Urushihara, Maki Nakagawa, Ryuji Hayabuchi, Yasunobu Imoto, Issei Kagami, Shoji Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome |
| title | Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome |
| title_full | Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome |
| title_fullStr | Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome |
| title_full_unstemmed | Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome |
| title_short | Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome |
| title_sort | molecular diagnosis of an infant with tsc2/pkd1 contiguous gene syndrome |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363882/ https://www.ncbi.nlm.nih.gov/pubmed/32695431 http://dx.doi.org/10.1038/s41439-020-0108-0 |
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