The clinical value of ATP7B sequencing in the diagnosis of Wilson`s disease
https://doi.org/10.1234/XXXX-XXXX-2016-7-14-16
Abstract
Wilson disease (WD) is an autosomal recessive copper accumulation disorder. ATP7B gene codes a protein which transports copper. Over 800 mutations has been identified in this gene. We present a case of 22 years old woman with clinical picture of cryptogenic hepatitis, oligomenorrhea and negative results of test for 8 frequent mutations. The sequencing of gene ATP7B had performed, and two mutations were identified: known mutation c.3190G>A (p.Glu1064Lys) and novel mutation c.3655A>T (p.Ile1219Phe). Therefore, WD diagnosis was confirmed and then copper helation therapy was started with positive effect.
About the Authors
M. S. Balashova
First Sechenov Moscow State Medical University
Russian Federation
Russian Federation
O. V. Solov`eva
First Sechenov Moscow State Medical University
Russian Federation
Russian Federation
S. V. Fastovets
Lomonosov Moscow State University
Russian Federation
Russian Federation
I. G. Tulusanovskaya
First Sechenov Moscow State Medical University
Russian Federation
Russian Federation
M. I. Filimonov
First Sechenov Moscow State Medical University
Russian Federation
Russian Federation
G. M. Bayazutdinova
Research Centre of medical Genetics
Russian Federation
Russian Federation
N. A. Zhuchenko
First Sechenov Moscow State Medical University
Russian Federation
Russian Federation
T. M. Ignatova
First Sechenov Moscow State Medical University
Russian Federation
Russian Federation
A. Yu. Asanov
First Sechenov Moscow State Medical University
Russian Federation
Russian Federation
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Review
For citations:
Balashova M.S., Solov`eva O.V., Fastovets S.V., Tulusanovskaya I.G., Filimonov M.I., Bayazutdinova G.M., Zhuchenko N.A., Ignatova T.M., Asanov A.Yu. The clinical value of ATP7B sequencing in the diagnosis of Wilson`s disease. Medical Genetics. 2016;15(7):14-16. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-7-14-16
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