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Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report.
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ABSTRACT: 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.
SUBMITTER: Yang H
PROVIDER: S-EPMC9631127 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
Publications
Two novel mutations in the <i>VPS33B</i> gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report.
World journal of clinical cases 20221001 30
<h4>Background</h4>The <i>VPS33B</i> (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 <i>VPS33B</i>. 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 <i>VPS33B</i> gene.<h4>Case summary</h4>We report a Chinese female infant with neonatal cholestasis diso ...[more]