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

Autor: Huong NTM; Human Genetics Department, Vietnam National Children's Hospital, Ministry of Health, 18/879 La Thanh str., Dongda, Hanoi, Vietnam., Lien NTK; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 - Hoang Quoc Viet str., Caugiay, Hanoi, Vietnam., Ngoc ND; Human Genetics Department, Vietnam National Children's Hospital, Ministry of Health, 18/879 La Thanh str., Dongda, Hanoi, Vietnam., Mai NTP; Human Genetics Department, Vietnam National Children's Hospital, Ministry of Health, 18/879 La Thanh str., Dongda, Hanoi, Vietnam., Hoa NPA; Hepatology Department, Vietnam National Children's Hospital, Ministry of Health, 18/879 La Thanh str., Dongda, Hanoi, Vietnam., Hai LT; Vietnam National Children's Hospital, Ministry of Health, 18/879 La Thanh str., Dongda, Hanoi, Vietnam., Van Chi P; Institute of Biotechnology, Vietnam Academy of Science and Technology, 18 - Hoang Quoc Viet str., Caugiay, Hanoi, Vietnam., Van TT; Hanoi Medical University, Ministry of Education and Training, 1 - Ton That Tung str., Dongda, Hanoi, Vietnam., Van Khanh T; Hanoi Medical University, Ministry of Education and Training, 1 - Ton That Tung str., Dongda, Hanoi, Vietnam., Hoang NH; Institute of Genome Research, Vietnam Academy of Science and Technology, 18 - Hoang Quoc Viet str., Caugiay, Hanoi, Vietnam. nhhoang@igr.ac.vn.
Jazyk: angličtina
Zdroj: BMC medical genetics [BMC Med Genet] 2018 Jun 18; Vol. 19 (1), pp. 104. Date of Electronic Publication: 2018 Jun 18.
DOI: 10.1186/s12881-018-0619-4
Abstrakt: 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.
Databáze: MEDLINE
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