伴有血色素沉着症的毛发-肝-肠综合征中的新型SKIC3变异体

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

作者信息

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

机构信息

Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

Perinatal Center, University of Miyazaki Hospital, Miyazaki, Japan.

出版信息

Hum Genome Var. 2025 Jul 18;12(1):14. doi: 10.1038/s41439-025-00318-y.

DOI:10.1038/s41439-025-00318-y

PMID:40675981

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12271341/

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.

摘要

毛发-肝脏-肠道综合征（THES）是一种由SKIC3或SKIC2基因变异引起的罕见常染色体隐性疾病，其特征为顽固性腹泻、羊毛状毛发、生长受限和肝脏疾病。在此，我们报告一例患有新生儿血色素沉着症的THES新生儿病例，其中鉴定出了新的复合杂合SKIC3变异NM_014639.4:c.815_816del p.(Gly272AlafsTer9)和NM_014639.4:c.2284G>A p.(Gly762Arg)。需要进一步研究以阐明THES中铁代谢失调的潜在机制。