We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with AKT1c.49G>A mutation. NGS analysis detected PIK3CAc.3140A>G mutation in the patient's affected tissue allowing for PROS (PIK3CA-related overgrowth spectrum) diagnosis. The overlapping clinical features in overgrowth disorders highlight the importance of molecular testing for a correct diagnosis.
PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report / Valentini, Virginia; Zelli, Veronica; Rizzolo, Piera; Silvestri, Valentina; Alimandi, Maurizio; D'Aloia, Maria Michela; Giustini, Sandra; Calvieri, Stefano; Richetta, Antonio Giovanni; Monteleone, Giovanni; Ottini, Laura. - In: CLINICAL CASE REPORTS. - ISSN 2050-0904. - ELETTRONICO. - 6:7(2018), pp. 1358-1363. [10.1002/ccr3.1546]
PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report
Valentini, Virginia;Zelli, Veronica;Rizzolo, Piera;Silvestri, Valentina;Alimandi, Maurizio;D'Aloia, Maria Michela;Giustini, Sandra;Calvieri, Stefano;Richetta, Antonio Giovanni;Ottini, Laura
2018
Abstract
We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with AKT1c.49G>A mutation. NGS analysis detected PIK3CAc.3140A>G mutation in the patient's affected tissue allowing for PROS (PIK3CA-related overgrowth spectrum) diagnosis. The overlapping clinical features in overgrowth disorders highlight the importance of molecular testing for a correct diagnosis.| File | Dimensione | Formato | |
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