A novel C-terminal truncating NR5A1 mutation in dizygotic twins.

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.

SUBMITTER: Hattori A 

PROVIDER: S-EPMC5352671 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature