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Article

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

European journal of human genetics : EJHG - 1 Sept 2018

Camats Núria, Fernández-Cancio Mónica, Audí Laura, Schaller André, Flück Christa E

Abstract excerpt

SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and adrenal failure, but most affected individuals show a broad DSD/reproductive phenotype only. Most NR5A1 variants show in vitro pathogenic effects, but not when tested in heterozygote state together with wild-type NR5A1 as usually seen in patients. Thus, the...

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Share to Disorder of Sex Development, 46,XY
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

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Identifiers

PMID: 29891883
DOI: 10.1038/s41431-018-0202-7
PMCID: PMC6117353

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