Unknown

Dataset Information

0

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

altmetric image

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]

Similar Datasets

| S-EPMC9053642 | biostudies-literature
| S-EPMC10102993 | biostudies-literature
| S-EPMC1698703 | biostudies-literature
| S-EPMC4922894 | biostudies-other
| S-EPMC2912534 | biostudies-literature
| S-EPMC8641794 | biostudies-literature
| S-EPMC4826887 | biostudies-other
| S-EPMC10314302 | biostudies-literature
2013-03-06 | GSE42700 | GEO
| S-EPMC6290277 | biostudies-literature