新的SKIC3变异在毛肝肠综合征合并血色素沉着症。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2025-07-18 DOI:10.1038/s41439-025-00318-y

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

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引用次数: 0

摘要

Tricho-hepato-enteric syndrome （THES）是一种罕见的常染色体隐性遗传病，由SKIC3或SKIC2基因变异引起，其特征是顽固性腹泻、羊毛状毛发、生长受限和肝脏疾病。在这里，我们报告了一例新生儿合并新生儿血色素沉着症，其中新的复合杂合SKIC3变异体NM_014639.4:c。815_816del p.（Gly272AlafsTer9）和NM_014639.4:c。鉴定出2284G>A p.（Gly762Arg）。需要进一步的研究来阐明这些铁代谢失调的机制。

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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 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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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks