Article
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
Clinical genetics - 1 Jul 2015
Seo S H, Hwang S M, Ko J M, Ko J S, Hyun Y J, Cho S I, Park H, Kim S Y, Seong M-W, Park S S
Abstract excerpt
Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B and VIPAS39. Here, we report novel mutations identified in four patients with ARC syndrome. We analyzed the entire coding regions of the VPS33B and VIPAS39 genes by direct sequencing. To detect novel splice site mutations, mRNA transcripts were analyzed by reverse...
Topics
- Arthrogryposis
- Cholestasis
- DNA Mutational Analysis
- Female
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Phenotype
- RNA Splice Sites