Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease

BMC Medical Genetics

Tran Van Khanh¹  Ta Thanh Van¹  Nguyen Pham Anh Hoa²  Ngo Diem Ngoc³  Nguyen Thi Mai Huong³  Nguyen Thi Phuong Mai³  Phan Van Chi⁴  Nguyen Thi Kim Lien⁵  Nguyen Huy Hoang⁵  Le Thanh Hai⁶ 

[1] Hanoi Medical University, Ministry of Education and Training;Hepatology Department, Vietnam National Children’s Hospital, Ministry of Health;Human Genetics Department, Vietnam National Children’s Hospital, Ministry of Health;Institute of Biotechnology, Vietnam Academy of Science and Technology;Institute of Genome Research, Vietnam Academy of Science and Technology;Vietnam National Children’s Hospital, Ministry of Health;

关键词: Mutation of the ATP7B gene;    Vietnamese patients;    Wilson disease;   

DOI  :  10.1186/s12881-018-0619-4

来源: DOAJ

【 摘 要 】

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 ATP7B 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 ATP7B gene were amplified and sequenced by Sanger method. Sequencing data were analyzed and compared with the ATP7B gene sequence published in Ensembl (ENSG00000123191) by using BioEdit software to detect mutations. Conclusions In this study, five mutations in the ATP7B 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.

【 授权许可】

Unknown