A novel C-terminal truncating NR5A1 mutation in dizygotic twins.
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ABSTRACT:
SUBMITTER: Hattori A
PROVIDER: S-EPMC5352671 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Publications
A novel C-terminal truncating <i>NR5A1</i> mutation in dizygotic twins.
Hattori Atsushi A Zukeran Hiroaki H Igarashi Maki M Toguchi Suzuka S Toubaru Yuji Y Inoue Takanobu T Katoh-Fukui Yuko Y Fukami Maki M
Human genome variation 20170316
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 <i>NR5A1</i> 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 <i>NR5A1</i> mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic ...[more]
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