A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.
Cigdem Yuce KahramanAli IslekAbdulgani TatarOzlem Ozdemir TozluAdil MardingluHasan TurkezPublished in: Medicina (Kaunas, Lithuania) (2021)
Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.
Keyphrases
- end stage renal disease
- newly diagnosed
- ejection fraction
- peritoneal dialysis
- copy number
- genome wide
- prognostic factors
- endothelial cells
- hepatitis b virus
- gene expression
- genome wide identification
- early onset
- high throughput
- transcription factor
- autism spectrum disorder
- patient reported
- brain injury
- childhood cancer