Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia:A case report  

作　　者：Jia-Xi Fang Jin-Shi Zhang Min-Min Wang Lin Liu 

机构地区：[1]Department of Nephrology,Zhejiang Provincial People’s Hospital,Affiliated People’s Hospital,Hangzhou Medical College,Hangzhou 310014,Zhejiang Province,China [2]Department of Nephrology,Chinese Medical Nephrology Key Laboratory of Zhejiang Province,Hangzhou 310014,Zhejiang Province,China [3]Department of Nephrology,Zhejiang Provincial People’s Hospital,Qingdao University,Hangzhou 310014,Zhejiang Province,China [4]School of Medicine,Hangzhou Normal University,Hangzhou 310018,Zhejiang Province,China

出　　处：《World Journal of Clinical Cases》2022年第20期7068-7075,共8页世界临床病例杂志

基　　金：Supported by Zhejiang Provincial Natural Science Foundation of China,No.LQ19H050003;General Project Funds from the Health Department of Zhejiang Province,No.2020KY439.

摘　　要：BACKGROUND Approximately 10%of adults and nearly all children who receive renal replacement therapy have inherited risk factors or are related to genetic factors.In the past,due to the limitations of detection technology and the nonspecific manifestations of uraemia,the etiological diagnosis is unclear.In addition to common monogenic diseases and complex disorders,advanced testing techniques have led to the recognition of more hereditary renal diseases.Here,we report a four-generation Chinese family in which four individuals had a novel SALL1 mutation and presented with uraemia or abnormal urine tests.CASE SUMMARY A 32-year-old man presented with end-stage renal disease with a 4-year history of dialysis.His father and paternal aunt both had a history of unexplained renal failure with haemodialysis,and his 10-year-old daughter presented with proteinuria.The patient had multiple congenital abnormalities,including bilateral overlapping toes,unilateral dysplastic external ears,and sensorineural hearing loss.His family members also presented with similar defects.Genetic testing revealed that the proband carried a novel heterozygous shift mutation in SALL1_exon 2(c.3437delG),and Sanger sequencing confirmed the same mutation in all affected family members.CONCLUSION We report a novel SALL1 exon 2(c.3437delG)mutation and clinical syndrome with kidney disease,bilateral overlapping toes,unilateral dysplastic external ears,and sensorineural hearing loss in a four-generation Chinese family.

关 键 词：SALL1 Gene mutation URAEMIA Hereditary renal diseases End stage renal disease Case report 

分 类 号：R692.5[医药卫生—泌尿科学]