Autor: |
Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai |
Jazyk: |
angličtina |
Rok vydání: |
2024 |
Předmět: |
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Zdroj: |
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024) |
Druh dokumentu: |
article |
ISSN: |
2054-345X |
DOI: |
10.1038/s41439-024-00300-0 |
Popis: |
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. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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