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An Asymptomatic Case With MEN1 Slipping Through Genetic Screening by SNV-dependent Allelic Dropout.

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Polymerase chain reaction (PCR)-based genetic testing for Multiple Endocrine Neoplasia type 1 (MEN1) can have pitfalls. A case highlights how PCR allelic dropout due to single-nucleotide variations can lead to misdiagnosis in families.

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Area of Science:

  • Medical Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Genetic testing aids in diagnosing Multiple Endocrine Neoplasia type 1 (MEN1) and identifying asymptomatic carriers.
  • Polymerase chain reaction (PCR)-based genetic testing has potential pitfalls that can lead to mismanagement.

Purpose of the Study:

  • To report an overlooked case of MEN1 caused by PCR allelic dropout.
  • To warn about the potential pitfalls of PCR-based genetic testing in MEN1 diagnosis.

Main Methods:

  • Clinical diagnosis of MEN1 in a 69-year-old male.
  • Genetic testing for the MEN1 gene in the proband and his asymptomatic son.
  • Comparison of results from two independent laboratories.

Main Results:

  • Discrepancy in genetic testing results between two laboratories for the son.
  • The discrepancy was attributed to PCR allelic dropout caused by single-nucleotide variations in the MEN1 gene.
  • The son was found to have asymptomatic primary hyperparathyroidism and a pancreatic neuroendocrine tumor.

Conclusions:

  • PCR-dependent genetic analysis can be susceptible to allelic dropout in a single-nucleotide variation-specific manner.
  • Caution is necessary when genetically testing relatives of individuals with clinical MEN1 disease.