Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.

Rawda Naamneh ElzenatyIdoia Martinez de LapiscinaChrysanthi KouriKay-Sara SauterGrit SommerLuis CastañoChrista E Flucknull null

Published in: The Journal of clinical endocrinology and metabolism (2024)

Genetic analyses and functional assays do not explain the observed wide phenotype of individuals with these novel NR5A1/SF-1 variants. In nine individuals, additional likely disease-causing variants in other genes were found, strengthening the hypothesis that the broad phenotype of DSD associated with NR5A1/SF-1 variants may be caused by an oligogenic mechanism.

Keyphrases

copy number
genome wide
mental health
dna methylation
high throughput
single cell
genome wide identification