Department of Gastroenterology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China.
World J Gastroenterol. 2023 Aug 21;29(31):4809-4814. doi: 10.3748/wjg.v29.i31.4809.
Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease with unknown etiology. Data on the genetic background in SRUS is lacking.
Here, we report the first case of SRUS in a mother-son relationship. Gene sequencing was conducted on the whole family, which revealed an inherited CHEK2 p.H371Y mutation. The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein, but affected the function of CHEK2, resulting in the expression level changes of downstream genes such as CDC25A.
SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.
孤立性直肠溃疡综合征（SRUS）是一种罕见的直肠疾病，病因不明。有关 SRUS 的遗传背景的数据尚缺乏。
本研究报道了首例母子 SRUS 病例。对整个家族进行了基因测序，发现了一个 CHEK2 p.H371Y 的遗传突变。实验初步揭示 CHEK2 突变不影响 CHEK2 蛋白的表达，但影响 CHEK2 的功能，导致下游基因如 CDC25A 的表达水平发生变化。
SRUS 是一种遗传易感性疾病，其中 CHEK2 p.H371Y 突变可能在 SRUS 的发生和预后中起关键作用。
