A novel C-terminal truncating NR5A1 mutation 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 truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional i...

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Detalles Bibliográficos
Autores principales: Hattori, Atsushi, Zukeran, Hiroaki, Igarashi, Maki, Toguchi, Suzuka, Toubaru, Yuji, Inoue, Takanobu, Katoh-Fukui, Yuko, Fukami, Maki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352671/
https://www.ncbi.nlm.nih.gov/pubmed/28326187
http://dx.doi.org/10.1038/hgv.2017.8
Descripción
Sumario: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.

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