Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.

Abstract

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome. All 23 coding exons and flanking introns of the VPS33B gene were amplified and sequenced using peripheral lymphocyte genomic DNA of the patient and her parents. Genetic testing revealed two novel mutations (c.1033delA and c.1567C>T) in the VPS33B gene. The patient is a compound heterozygote and her parents were heterozygous for each of the mutations.

• Authors: Li-Ting Li, Jing Zhao, Rui Chen, Jian-She Wang
• Journal: World journal of gastroenterology (World J Gastroenterol) Vol. 20 Issue 1 Pg. 326-9 (Jan 07 2014) ISSN: 2219-2840 [Electronic] United States
• PMID: 24415890 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• VPS33B protein, human
• Vesicular Transport Proteins

Topics

• Arthrogryposis (diagnosis, genetics)
• China
• Cholestasis (diagnosis, genetics)
• DNA Mutational Analysis
• Exons
• Failure to Thrive
• Fatal Outcome
• Female
• Genetic Predisposition to Disease
• Heterozygote
• Humans
• Infant
• Infant, Newborn
• Liver Failure (genetics)
• Mutation
• Pedigree
• Phenotype
• Renal Insufficiency (diagnosis, genetics)
• Vesicular Transport Proteins (genetics)