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A novel HECW2 variant in an infant with congenital long QT syndrome
Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The...
| Autores principales: | , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10244414/ https://www.ncbi.nlm.nih.gov/pubmed/37280227 http://dx.doi.org/10.1038/s41439-023-00245-w |
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| author | Imanishi, Rina Nakau, Kouichi Shimada, Sorachi Oka, Hideharu Takeguchi, Ryo Tanaka, Ryosuke Sugiyama, Tatsutoshi Nii, Mitsumaro Okamoto, Toshio Nagaya, Ken Makita, Yoshio Yanagi, Kumiko Kaname, Tadashi Takahashi, Satoru |
| author_facet | Imanishi, Rina Nakau, Kouichi Shimada, Sorachi Oka, Hideharu Takeguchi, Ryo Tanaka, Ryosuke Sugiyama, Tatsutoshi Nii, Mitsumaro Okamoto, Toshio Nagaya, Ken Makita, Yoshio Yanagi, Kumiko Kaname, Tadashi Takahashi, Satoru |
| author_sort | Imanishi, Rina |
| collection | PubMed |
| description | Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The patient presented with fetal tachyarrhythmia and hydrops and was postnatally diagnosed with long QT syndrome. This study provides evidence that HECW2 pathogenic variants can cause long QT syndrome along with neurodevelopmental disorders. |
| format | Online Article Text |
| id | pubmed-10244414 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-102444142023-06-08 A novel HECW2 variant in an infant with congenital long QT syndrome Imanishi, Rina Nakau, Kouichi Shimada, Sorachi Oka, Hideharu Takeguchi, Ryo Tanaka, Ryosuke Sugiyama, Tatsutoshi Nii, Mitsumaro Okamoto, Toshio Nagaya, Ken Makita, Yoshio Yanagi, Kumiko Kaname, Tadashi Takahashi, Satoru Hum Genome Var Data Report Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The patient presented with fetal tachyarrhythmia and hydrops and was postnatally diagnosed with long QT syndrome. This study provides evidence that HECW2 pathogenic variants can cause long QT syndrome along with neurodevelopmental disorders. Nature Publishing Group UK 2023-06-06 /pmc/articles/PMC10244414/ /pubmed/37280227 http://dx.doi.org/10.1038/s41439-023-00245-w Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Data Report Imanishi, Rina Nakau, Kouichi Shimada, Sorachi Oka, Hideharu Takeguchi, Ryo Tanaka, Ryosuke Sugiyama, Tatsutoshi Nii, Mitsumaro Okamoto, Toshio Nagaya, Ken Makita, Yoshio Yanagi, Kumiko Kaname, Tadashi Takahashi, Satoru A novel HECW2 variant in an infant with congenital long QT syndrome |
| title | A novel HECW2 variant in an infant with congenital long QT syndrome |
| title_full | A novel HECW2 variant in an infant with congenital long QT syndrome |
| title_fullStr | A novel HECW2 variant in an infant with congenital long QT syndrome |
| title_full_unstemmed | A novel HECW2 variant in an infant with congenital long QT syndrome |
| title_short | A novel HECW2 variant in an infant with congenital long QT syndrome |
| title_sort | novel hecw2 variant in an infant with congenital long qt syndrome |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10244414/ https://www.ncbi.nlm.nih.gov/pubmed/37280227 http://dx.doi.org/10.1038/s41439-023-00245-w |
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