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Hereditary Persistence of Alpha-Fetoprotein Is Associated with the -119G>A Polymorphism in AFP Gene.


ABSTRACT: Alpha-fetoprotein (AFP) is a glycoprotein that is produced by the liver and yolk sac during fetal development. Its levels are usually raised in malignant conditions. Hereditary persistence of AFP (HPAFP) is a rare benign condition with elevated levels of AFP. It is inherited in a dominant mode with complete penetrance and is usually not associated with any clinical disability. We report two individuals with elevated levels of AFP harboring the -119G>A polymorphism in the AFP gene. A genetic screening to rule out variants in the AFP gene is advised in cases with unexplained persistent AFP levels to avoid inappropriate treatment and surgical options.

SUBMITTER: Deshpande N 

PROVIDER: S-EPMC5340718 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Hereditary Persistence of Alpha-Fetoprotein Is Associated with the -119G>A Polymorphism in <i>AFP</i> Gene.

Deshpande Neha N   Chavan Radhika R   Bale Govardhan G   Avanthi Urmila Steffie US   Aslam Mohsin M   Ramchandani Mohan M   Reddy D Nageshwar DN   Ravikanth V V VV  

ACG case reports journal 20170301


Alpha-fetoprotein (AFP) is a glycoprotein that is produced by the liver and yolk sac during fetal development. Its levels are usually raised in malignant conditions. Hereditary persistence of AFP (HPAFP) is a rare benign condition with elevated levels of AFP. It is inherited in a dominant mode with complete penetrance and is usually not associated with any clinical disability. We report two individuals with elevated levels of AFP harboring the -119G>A polymorphism in the <i>AFP</i> gene. A genet  ...[more]

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