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

## TL;DR

A new case of a rare genetic disorder is reported with unique gene variants and additional iron metabolism issues.

## Contribution

Identification of novel compound heterozygous SKIC3 variants in a THES patient with neonatal hemochromatosis.

## Key findings

- Compound heterozygous SKIC3 variants c.815_816del and c.2284G>A were found in a THES patient.
- The patient also presented with neonatal hemochromatosis, suggesting a link to iron metabolism dysregulation.

## 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.