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

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 no...

Full description

Saved in:
Bibliographic Details
Published inHuman genome variation Vol. 12; no. 1; pp. 14 - 4
Main Authors Ochiai, Kayo, Aoki, Yoshinori, Yamada, Naoshi, Aman, Murasaki, Yamashita, Atsushi, Yamaguchi, Masatoshi, Nakato, Daisuke, Takenouchi, Toshiki, Kosaki, Kenjiro, Kodama, Yuki, Moritake, Hiroshi
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 18.07.2025
Springer Nature B.V
Nature Publishing Group
Subjects
631/208/2489/144
692/308/2056
Amniotic fluid
Anemia
Ascites
Bile
Biomedical and Life Sciences
Biomedicine
Data Report
Diarrhea
Enteral nutrition
Feces
Gene Expression
Gene Function
Gene Therapy
Genomes
Genotype & phenotype
Hemochromatosis
Hereditary diseases
Human Genetics
Hypoglycemia
Insects
Iron
Liver diseases
Molecular Medicine
Mutation
Neonates
R&D
Research & development
Stains & staining
Ultrasonic imaging
Japan
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
content type line 23
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-025-00318-y