Kylat Ranjit I, Stanley Kelly, Simon Sarah, Erickson Robert P
College of Medicine, University of Arizona, 1501 N Campbell, Tucson, AZ, 85724, USA.
Banner University Hospital, Tucson, AZ, USA.
J Appl Genet. 2023 Feb;64(1):141-144. doi: 10.1007/s13353-022-00728-6. Epub 2022 Sep 30.
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked, known as IPEX syndrome, is a rare heterogeneous condition. Zhu-Tokita-Takenouchi-Kim Syndrome (ZTTK) is an autosomal dominant condition arising from a mutation in the SON gene, which is involved in mRNA splicing. A case showing interactions of mutations in these two genes is described in which both conditions become non-typical.
免疫失调、多内分泌腺病、肠病和X连锁，即IPEX综合征，是一种罕见的异质性疾病。朱-户田-竹野内-金综合征（ZTTK）是一种常染色体显性疾病，由参与mRNA剪接的SON基因突变引起。本文描述了一个显示这两个基因中突变相互作用的病例，其中两种疾病均呈现非典型表现。
