Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis,renal dysfunction and cholestasis syndrome 1:A case report  

作　　者：Hui Yang Shuang-Zhu Lin Shi-Hui Guan Wan-Qi Wang Jia-Yi Li Gui-Dan Yang Su-Li Zhang 

机构地区：[1]Department of Neonatology,Hainan Women and Children's Medical Center,Haikou 570100,Hainan Province,China [2]Diagnosis and Treatment Center for Children,The First Affiliated Hospital to Changchun University of Chinese Medicine,Changchun 130021,Jilin Province,China [3]Changchun University of Chinese Medicine,Changchun 130000,Jilin Province,China

出　　处：《World Journal of Clinical Cases》2022年第30期11016-11022,共7页世界临床病例杂志

基　　金：Supported by the Hainan Province Clinical Medical Center,No.(2021)75 and(2021)276。

摘　　要：BACKGROUND The VPS33B(OMIM:608552)gene is located on chromosome 15q26.1.We found a female infant with autosomal recessive arthrogryposis,renal dysfunction and cholestasis syndrome 1(ARCS1)caused by mutation in VPS33B.The child was diagnosed with ARCS1(OMIM:208085)after the whole exome sequencing revealed two heterozygous mutations(c.96+1G>C,c.242delT)in the VPS33B gene.CASE SUMMARY We report a Chinese female infant with neonatal cholestasis disorder,who was eventually diagnosed with ARCS1 by genetic analysis.Genetic testing revealed two new mutations(c.96+1G>C and c.242delT)in VPS33B,which is the causal gene.The patient was compound heterozygous,and her parents were both heterozygous.CONCLUSION This study extends the mutational spectrum of the VPS33B gene to provide a molecular basis for the etiological diagnosis of ARCS1 and for genetic counseling of the family.

关 键 词：Arthrogryposis renal dysfunction and cholestasis syndrome 1 VPS33B gene Children Heterozygous mutation Case report 

分 类 号：R725.9[医药卫生—儿科]