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Updated: Sep 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis
Kayo Ochiai1,2, Yoshinori Aoki3,4, Naoshi Yamada2,5
1Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Abstract:
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.
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