Article
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Human mutation - 1 Jan 2018
Robevska Gorjana, van den Bergen Jocelyn A, Ohnesorg Thomas, Eggers Stefanie, Hanna Chloe, Hersmus Remko, Thompson Elizabeth M, Baxendale Anne, Verge Charles F, Lafferty Antony R, Marzuki Nanis S, Santosa Ardy, Listyasari Nurin A, Riedl Stefan, Warne Garry, Looijenga Leendert, Faradz Sultana, Ayers Katie L, Sinclair Andrew H
Abstract excerpt
Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had reduced...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.