A novel C-terminal truncatingNR5A1mutation in dizygotic twins.
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 truncatingNR5A1mutation, 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 thatNR5A1mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction.
Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
Atsushi
A
Hattori
Department of Pediatrics, Naha City Hospital , Naha, Japan.
Hiroaki
H
Zukeran
Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
Maki
M
Igarashi
Department of Pediatrics, Naha City Hospital , Naha, Japan.
Suzuka
S
Toguchi
Department of Pediatrics, Naha City Hospital , Naha, Japan.
Yuji
Y
Toubaru
Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
Takanobu
T
Inoue
Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
Yuko
Y
Katoh-Fukui
Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
Maki
M
Fukami