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Identifi cation of two novel mutations in the ATP7B gene that cause Wilson's disease 
Identifi cation of two novel mutations in the ATP7B gene that cause Wilson's disease
  Hong-Wen Zhu, Zhong-Bin Tao, Gang Su, Qiao-Ying Jin, Liang-Tao Zhao, Jia-Rui Zhu, Jun Yan, Tian-Yu Yu, Jie-Xian Ding, Yu-Min Li
 [Abstract] [Full Text] [PDF]   Pageviews: 347 Times
Background: Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene.
Methods: Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wilson's disease. DNA sequencing and bioinformation analysis were conducted.
Results: We have identified four mutations in two family trios, of which two were novel, namely, c. 3028A>G (p. K1010E) and c.3992T>G (p.Y1331X), in each patient.
Conclusions: Gene testing is playing an important role in diagnosis of Wilson's disease. The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein. Our findings further widen the spectrum of mutations involving the ATP7B gene.
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