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<p>Tricho-hepato-enteric syndrome (THES), a rare autosomal recessive disorder caused by variants in the <i>SKIC3</i> or <i>SKIC2</i> gene, is characterized by intractable diarrhea, woolly hair, growth restriction and liver disease. Here we report a neonatal case of THES with neonatal hemochromatosis, in which the novel compound heterozygous <i>SKIC3</i> variants NM_014639.4:c.815_816del p.(Gly272AlafsTer9) and NM_014639.4:c.2284G&gt;A p.(Gly762Arg) were identified. Further research is needed to elucidate the mechanisms underlying iron metabolism dysregulation in THES.</p>

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Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月18日

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  • Kayo Ochiai,
  • Yoshinori Aoki,
  • Naoshi Yamada,
  • Murasaki Aman,
  • Atsushi Yamashita,
  • Masatoshi Yamaguchi,
  • Daisuke Nakato,
  • Toshiki Takenouchi,
  • Kenjiro Kosaki,
  • Yuki Kodama,
  • Hiroshi Moritake

摘要

Tricho-hepato-enteric syndrome (THES), a rare autosomal recessive disorder caused by variants in the SKIC3 or SKIC2 gene, is characterized by intractable diarrhea, woolly hair, growth restriction and liver disease. Here we report a neonatal case of THES with neonatal hemochromatosis, in which the novel compound heterozygous SKIC3 variants NM_014639.4:c.815_816del p.(Gly272AlafsTer9) and NM_014639.4:c.2284G>A p.(Gly762Arg) were identified. Further research is needed to elucidate the mechanisms underlying iron metabolism dysregulation in THES.