Human Genome Variation (Nov 2024)

Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease

  • Masaharu Moroto,
  • Uda Daisuke,
  • Tomoya Yodoi,
  • Yoshihiro Nitta,
  • Yohei Sugimoto,
  • Tomohiro Chiyonobu,
  • Hiroyuki Yamada,
  • Kayo Ozaki,
  • Taichi Nakatani,
  • Norio Sakai

DOI
https://doi.org/10.1038/s41439-024-00300-0
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 4

Abstract

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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.