A novel C-terminal truncating NR5A1 mutation in dizygotic twins

Atsushi Hattori; Hiroaki Zukeran; Maki Igarashi; Suzuka Toguchi; Yuji Toubaru; Takanobu Inoue; Yuko Katoh-Fukui; Maki Fukami

doi:10.1038/hgv.2017.8

A novel C-terminal truncating NR5A1 mutation in dizygotic twins

Hum Genome Var. 2017 Mar 16:4:17008. doi: 10.1038/hgv.2017.8. eCollection 2017.

Authors

Atsushi Hattori¹, Hiroaki Zukeran², Maki Igarashi¹, Suzuka Toguchi², Yuji Toubaru², Takanobu Inoue¹, Yuko Katoh-Fukui¹, Maki Fukami¹

Affiliations

¹ Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
² Department of Pediatrics, Naha City Hospital , Naha, 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.