We suggest that the isolated R171Q amino acid change might be regarded as a point mutation with low penetrance MEN1 phenotype, rather than a harmless polymorphism. Therefore, MEN1 patients carrying this genetic alteration, as well as clinically unaffected carriers, should undergo a careful endocrine investigation and a close clinical and biochemical follow-up.
Isolated R171Q amino acid change in MEN1 gene: polymorphism or mutation?
PILON, CATIA;FALLO, FRANCESCO
2008
Abstract
We suggest that the isolated R171Q amino acid change might be regarded as a point mutation with low penetrance MEN1 phenotype, rather than a harmless polymorphism. Therefore, MEN1 patients carrying this genetic alteration, as well as clinically unaffected carriers, should undergo a careful endocrine investigation and a close clinical and biochemical follow-up.
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