hrp0086p1-p373 | Gonads & DSD P1 | ESPE2016

Compound Heterozygous C10orf2 Mutations in a Japanese Patient with 46,XX Ovarian Failure and Deafness

Nagasaki Keisuke , Nyuzuki Hiromi , Sasaki Sunao , Sato Hidetoshi , Ogawa Yohei

Background: Perrault syndrome is a rare autosomal recessive disorder characterised by sensorineural hearing deafness in both sexes and primary ovarian failure in 46, XX karyotype females. HSD17B4, HARS2, LARS2, CLPP and C10orf2, which associated mitochondrial function, are reported as causative genes.Objective and hypotheses: Here we reported on a Japanese patient who identified C10orf2 mutation with the fourth patient in Perrault syndr...

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 ...