PERCC1 相关性先天性肠病。
PERCC1 -Related Congenital Enteropathy.
机构信息
Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Department of Pediatrics, Skåne University Hospital, Lund University, Malmö, Sweden.
出版信息
Clin Genet. 2025 Jan;107(1):115-116. doi: 10.1111/cge.14638. Epub 2024 Oct 29.
Abstract
A total of 14 patients are known with the nonsyndromic enteropathy caused by biallelic deletions (∆L and ∆S) or truncating mutations affecting PERCC1 or its adjacent regulatory region. PERCC1 is so far in gnomAD only annotated in the GRCh38 reference sequence. Parenteral nutrition is required throughout childhood and often in adolescence.
摘要
共有 14 名患者患有由双等位基因缺失（∆L 和 ∆S）或影响 PERCC1 或其相邻调节区的截断突变引起的非综合征性肠病。PERCC1 迄今为止仅在 gnomAD 中注释在 GRCh38 参考序列中。患者需要终生接受肠外营养，且在青少年时期往往也需要。
Zotero 插件