Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
Abstract Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. The patient gradually became unable to consume food orally. She suffered severe aspiratio...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-11-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00300-0 |
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| _version_ | 1832594921862725632 |
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| author | Masaharu Moroto Uda Daisuke Tomoya Yodoi Yoshihiro Nitta Yohei Sugimoto Tomohiro Chiyonobu Hiroyuki Yamada Kayo Ozaki Taichi Nakatani Norio Sakai |
| author_facet | Masaharu Moroto Uda Daisuke Tomoya Yodoi Yoshihiro Nitta Yohei Sugimoto Tomohiro Chiyonobu Hiroyuki Yamada Kayo Ozaki Taichi Nakatani Norio Sakai |
| author_sort | Masaharu Moroto |
| collection | DOAJ |
| description | Abstract Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. The patient gradually became unable to consume food orally. She suffered severe aspiration pneumonia and underwent gastrostomy and laryngotracheal separation at 2 years and 4 months of age. Despite an initially good prognosis, she died at 3 years of age. |
| format | Article |
| id | doaj-art-9fc45db1001049baabfef37fd18844a0 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-9fc45db1001049baabfef37fd18844a02025-01-19T12:15:36ZengNature Publishing GroupHuman Genome Variation2054-345X2024-11-011111410.1038/s41439-024-00300-0Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs diseaseMasaharu Moroto0Uda Daisuke1Tomoya Yodoi2Yoshihiro Nitta3Yohei Sugimoto4Tomohiro Chiyonobu5Hiroyuki Yamada6Kayo Ozaki7Taichi Nakatani8Norio Sakai9Department of Pediatrics, Fukuchiyama City HospitalDepartment of Pediatrics, Fukuchiyama City HospitalDepartment of Pediatrics, Fukuchiyama City HospitalDepartment of Pediatrics, Fukuchiyama City HospitalDepartment of Pediatrics, Kumihama HospitalDepartment of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of MedicineDepartment of Pediatrics, Toyooka Public HospitalDepartment of Endocrinology and Metabolism, Hyogo Prefectural Kobe Children’s HospitalDepartment of Pediatric Surgery, Hyogo Prefectural Kobe Children’s HospitalCenter for Promoting Treatment of Intractable Disease, ISEIKAI International General HospitalAbstract Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. The patient gradually became unable to consume food orally. She suffered severe aspiration pneumonia and underwent gastrostomy and laryngotracheal separation at 2 years and 4 months of age. Despite an initially good prognosis, she died at 3 years of age.https://doi.org/10.1038/s41439-024-00300-0 |
| spellingShingle | Masaharu Moroto Uda Daisuke Tomoya Yodoi Yoshihiro Nitta Yohei Sugimoto Tomohiro Chiyonobu Hiroyuki Yamada Kayo Ozaki Taichi Nakatani Norio Sakai Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease Human Genome Variation |
| title | Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease |
| title_full | Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease |
| title_fullStr | Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease |
| title_full_unstemmed | Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease |
| title_short | Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease |
| title_sort | simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with tay sachs disease |
| url | https://doi.org/10.1038/s41439-024-00300-0 |
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