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Updated: Mar 5, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A novel C-terminal truncating NR5A1 mutation in dizygotic twins
Atsushi Hattori1, Hiroaki Zukeran2, Maki Igarashi1
1Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
Abstract:
Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction.
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