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LIU Zhenyu^1,2a, ZHANG Junning^1,2a, YANG Xueli^1,2a, WANG Guangyu^1,2a, HOU Xianliang^1,2b

(1. Central Laboratory, the Second Affiliated Hospital of Guilin Medical University, Guilin 541199,China; 2. a. College of Clinical Medicine, b. College of Medical Laboratory, Guilin Medical University,Guilin 541199,China)

Abstract Objective To explore the correlation between karyomegalic interstitial nephritis ( KIN ) and FAN1 gene mutations. Methods In October 2022,a family lineage of nephritis with familial aggregation was clinically confirmed in our department. The whole exome sequencings of the patients with nephritis were performed to identify candidate genes. The genetic pathogenicity was analyzed using Alpine analysis, gene variant interpretation, and Sanger sequencing analysis. Results The clinical phenotype of the patients from a family with nephropathy was nephritis. A c.1799A>T mutation in FAN1 gene was detected in the mother of the patients with nephritis. Sanger sequencing was performed on heterozygous members in the family, and the same mutated genes were also detected in a heterozygous member of this family. According to the recommended guidelines of American college of medical genetics and genomics ( ACMG) , it is classifiedas a gene mutation of unknown significance. The phenotype of familial nephritis in this study was partially consistent with that of KIN. Conclusion The phenotype of familial nephritis in this study is closely related to c.1799A>T site mutation in FAN1 gene.

Keywords: nephritis; FAN1 gene; karyomegalic interstitial nephritis; whole exome sequencing

DOI:10.19296/j.cnki.1008-2409.2024-03-007

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