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<p>Here we report a Japanese patient with juvenile/adult-type galactosialidosis carrying a homozygous c.692+3A&gt;G <i>CTSA</i> variant. Comprehensive genetic analyses including exome sequencing, chromosomal microarray and homozygosity mapping supported biallelic inheritance of this variant and suggested a founder effect in the Japanese population. Clinically, the patient exhibited typical features of the juvenile/adult-type galactosialidosis, with growth impairment noted during adolescence as a less conspicuous but relevant observation.</p>

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Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月26日

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  • Machiko Toki,
  • Kazushige Tsunoda,
  • Tetsumin So,
  • Motomichi Kosuga,
  • Torayuki Okuyama,
  • Masashi Miharu,
  • Tomonobu Hasegawa,
  • Kazuki Yamazawa

摘要

Here we report a Japanese patient with juvenile/adult-type galactosialidosis carrying a homozygous c.692+3A>G CTSA variant. Comprehensive genetic analyses including exome sequencing, chromosomal microarray and homozygosity mapping supported biallelic inheritance of this variant and suggested a founder effect in the Japanese population. Clinically, the patient exhibited typical features of the juvenile/adult-type galactosialidosis, with growth impairment noted during adolescence as a less conspicuous but relevant observation.