hrp0089p1-p261 | Thyroid P1 | ESPE2018

A Novel DICER1 Mutation Identified in a Family with the Multinodular Goiter of Children

Nagasaki Keisuke , Shibata Nao , Nyuzuki Hiromi , Sasaki Sunao , Ogawa Yohei , Kogai Takahiko , Hishinuma Akira

Background: Nontoxic multinodular goiter (MNG) is frequently encountered in the general population, but little is known about the underlying genetic susceptibility to this disease. Recently, germline mutations in DICER1, a gene that codes for an RNase III endoribonuclease, have been identified in familial MNG with and without Sertoli-Leydig cell tumor of the ovary.Objective: We reporteda family exhibiting various thyroid diseases in which a ...