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- Title
Three novel mutations in the <italic>ATP7B</italic> gene of unrelated Vietnamese patients with Wilson disease.
- Authors
Huong, Nguyen Thi Mai; Lien, Nguyen Thi Kim; Ngoc, Ngo Diem; Mai, Nguyen Thi Phuong; Hoa, Nguyen Pham Anh; Hai, Le Thanh; Van Chi, Phan; Van, Ta Thanh; Van Khanh, Tran; Hoang, Nguyen Huy
- Abstract
Background: Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong treatment. Another serious consequence of the disease is the development of liver damage and acute liver failure leading to liver transplant. The disorder is caused by mutations in the <italic>ATP7B</italic> gene, encoding a P-type copper transporting ATPase. Case presentation: We performed genetic analysis of three unrelated patients from three different Vietnamese families. These patients had clinical features such as numbness of hands and feet, vomiting, insomnia, palsy, liver failure and Kayser–Fleischer (K–F) rings and were diagnosed with Wilson disease in the Human Genetics Department, Vietnam National Children's Hospital. The entire coding region and adjacent splice sites of <italic>ATP7B</italic> gene were amplified and sequenced by Sanger method. Sequencing data were analyzed and compared with the <italic>ATP7B</italic> gene sequence published in Ensembl (ENSG00000123191) by using BioEdit software to detect mutations. Conclusions: In this study, five mutations in the <italic>ATP7B</italic> gene were found. Among of these, three mutations were novel: c.750_751insG (p.His251Alafs*19) in exon 2, c.2604delC (p.Pro868Profs*5) in exon 11, and c.3077 T > A (p.Phe1026Tyr) in exon 14. Our results of the mutations associated with Wilson disease might facilitate the development of effective treatment plans.
- Subjects
HEPATOLENTICULAR degeneration; ADENOSINE triphosphatase; EXONS (Genetics); GENETICS
- Publication
BMC Medical Genetics, 2018, Vol 19, Issue 1, pN.PAG
- ISSN
1471-2350
- Publication type
Case Study
- DOI
10.1186/s12881-018-0619-4