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- Title
Identification and characterization of a novel 43-bp deletion mutation of the <italic>ATP7B</italic> gene in a Chinese patient with Wilson's disease: a case report.
- Authors
Liu, Gang; Ma, Dingyuan; Cheng, Jian; Zhang, Jingjing; Luo, Chunyu; Sun, Yun; Hu, Ping; Wang, Yuguo; Jiang, Tao; Xu, Zhengfeng
- Abstract
Background: Wilson's disease (WD) is an autosomal recessive disorder characterized by copper accumulation. <italic>ATP7B</italic> gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson's disease. Case presentation: We describe a male case of Wilson's disease diagnosed at 10 years after routine biochemical test that showed low serum ceruloplasmin levels and Kayser–Fleischer rings in both corneas. Analysis of the <italic>ATP7B</italic> gene revealed compound heterozygous mutations in the proband, including the reported c.3517G > A mutation and a novel c.532_574del mutation. The c.532_574del mutation covered a 43-bp region in exon 2, and resulted in a frameshift mutation (p.Leu178PhefsX10). By base sequence analysis, two microhomologies (TCTCA) were observed on both deletion breakpoints in the <italic>ATP7B</italic> gene. Meanwhile, the presence of some sequence motifs associated with DNA breakage near the deletion region promoted DNA strand break. Conclusions: By comparison, a replication-based mechanism named fork stalling and template switching/ microhomology-mediated break-induced replication (FoSTeS/MMBIR) was used to explain the formation of this novel deletion mutation.
- Subjects
HUMAN deletion mutation; HEPATOLENTICULAR degeneration; PROTEIN genetics; NUCLEOTIDE analysis; DNA damage; DNA replication; PATIENTS
- Publication
BMC Medical Genetics, 2018, Vol 19, Issue 1, pN.PAG
- ISSN
1471-2350
- Publication type
Case Study
- DOI
10.1186/s12881-018-0567-z