Moroto Masaharu, Daisuke Uda, Yodoi Tomoya, Nitta Yoshihiro, Sugimoto Yohei, Chiyonobu Tomohiro, Yamada Hiroyuki, Ozaki Kayo, Nakatani Taichi, Sakai Norio
Department of Pediatrics, Fukuchiyama City Hospital, Kyoto, Japan.
Department of Pediatrics, Maizuru Medical Center, Kyoto, Japan.
Hum Genome Var. 2024 Nov 29;11(1):43. doi: 10.1038/s41439-024-00300-0.
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.
基因检测在一名被诊断为泰-萨克斯病的16个月大女童中，发现了己糖胺酶A基因（NM_00520.6: c.775A>C和NM_000520.6: c.508C>T）中的新型复合杂合错义变体。该患者逐渐无法经口进食。她患上了严重的吸入性肺炎，并在2岁4个月时接受了胃造口术和喉气管分离术。尽管最初预后良好，但她在3岁时去世。
