A novel K224T missense mutation in a patient with MEN1 syndrome
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We present a patient with no known family history of endocrine tumors and a presumed de novo novel missense mutation of the MEN1 gene with a K224T amino acid substitution. Although classified as a variant of uncertain significance, given the patient’s clinical disease, we believe this may represent a pathologic disease–causing mutation.
The authors would like to thank Shuang Yan, Ph.D, from GeneDx for providing the genetic information to be included in this case report.
Compliance with ethical standards
Informed consent was obtained from the patient for presentation of his case.
Conflict of interest
The authors declare that they have no conflict of interest.