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MEN1 family with a novel frameshift mutation
V Nuzzo1, L Tauchmanová, A Falchetti
1Internal Medicine Unit, Federico II University of Naples, Naples, Italy.
Journal of Endocrinological Investigation
|June 24, 2006
Summary
Multiple endocrine neoplasia type 1 (MEN1) syndrome is linked to a novel frameshift mutation. Early investigation is crucial for diagnosing this complex genetic disorder, even with a negative family history.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder predisposing to endocrine and non-endocrine tumors.
- MEN1 syndrome is characterized by variable clinical manifestations due to diverse gene mutations.
Observation:
- A 51-year-old male presented with diarrhea, hypertension, and a history of mesenchymal neoplasia and adrenal adenoma.
- Physical examination revealed lipomas and facial angiofibromas; biochemical tests showed hyperparathyroidism and elevated PRL, chromogranin-A, gastrin, and glucagon.
- Imaging studies were inconclusive for small neuroendocrine tumors, but endoscopic ultrasound identified a pancreatic lesion.
Findings:
- Direct DNA sequencing identified a novel 579delG frameshift mutation in the MEN1 gene in the proband.
- The same mutation was found in three of five offspring, who also exhibited biochemical features of MEN1 syndrome.
- The study identified a novel MEN1 mutation in a family with a seemingly negative history.
Implications:
- This case highlights a novel MEN1 mutation, emphasizing the genetic complexity and variable expressivity of the syndrome.
- Early and specialized investigation is essential for diagnosing MEN1 syndrome, even in the absence of a clear family history.
- The findings underscore the importance of comprehensive genetic and biochemical screening for affected families.