在三名罗特综合征患者中发现的复发性突变。
Recurrent and mutations identified in three patients with Rotor syndrome.
作者信息
Zhao Chenyu, Huang Hui
机构信息
Department of Gastroenterology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.
Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, China.
出版信息
Front Med (Lausanne). 2025 Aug 18;12:1630360. doi: 10.3389/fmed.2025.1630360. eCollection 2025.
BACKGROUND
Rotor syndrome is a rare genetic disease inherited in an autosomal digenic recessive manner. It is caused by pathogenic mutations in both and genes, and characterized by predominantly conjugated hyperbilirubinemia.
METHODS
Three Chinese patients clinically diagnosed with Rotor syndrome were included. Mutations in genes were identified using whole-exome sequencing.
RESULTS
They all carried the same homozygous c.1738C>T mutation in and the c.481+22insLINE variant in .
CONCLUSION
This study established a genetic diagnosis for the three patients and contributed to finding hotspot mutations in Rotor syndrome.
背景
罗特综合征是一种罕见的常染色体双基因隐性遗传疾病。它由 和 基因的致病突变引起，主要特征为结合胆红素血症。
方法
纳入3例临床诊断为罗特综合征的中国患者。采用全外显子组测序鉴定 基因中的突变。
结果
他们均在 基因中携带相同的纯合c.1738C>T突变以及在 基因中携带c.481+22insLINE变异。
结论
本研究对3例患者进行了基因诊断，并有助于发现罗特综合征的热点突变。
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