Publication:
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.

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cris.virtualsource.author-orcid8611ba69-ec42-4b84-beab-e8f2f63a3e45
dc.contributor.authorMartínez de LaPiscina, Idoia
dc.contributor.authorMahmoud, Rana Aa
dc.contributor.authorSauter, Kay-Sara
dc.contributor.authorEsteva, Isabel
dc.contributor.authorAlonso, Milagros
dc.contributor.authorCosta, Ines
dc.contributor.authorRial-Rodriguez, Jose Manuel
dc.contributor.authorRodríguez-Estévez, Amaia
dc.contributor.authorVela, Amaia
dc.contributor.authorCastano, Luis
dc.contributor.authorFlück Pandey, Christa Emma
dc.date.accessioned2024-10-05T12:00:39Z
dc.date.available2024-10-05T12:00:39Z
dc.date.issued2020-11-13
dc.description.abstractVariants of NR5A1 are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such complex phenotypic expression can be due to the inheritance of additional genetic hits in DSD-associated genes that modify sex determination, differentiation and organ function in patients with heterozygous NR5A1 variants. Here we describe the clinical, biochemical and genetic features of a series of seven patients harboring monoallelic variants in the NR5A1 gene. We tested the transactivation activity of novel NR5A1 variants. We additionally included six of these patients in a targeted diagnostic gene panel for DSD and identified a second genetic hit in known DSD-causing genes STAR, AMH and ZFPM2/FOG2 in three individuals. Our study increases the number of NR5A1 variants related to 46,XY DSD and supports the hypothesis that a digenic mode of inheritance may contribute towards the broad spectrum of phenotypes observed in individuals with a heterozygous NR5A1 variation.
dc.description.sponsorshipUniversitätsklinik für Kinderheilkunde
dc.identifier.doi10.48350/150407
dc.identifier.pmid33202802
dc.identifier.publisherDOI10.3390/ijms21228554
dc.identifier.urihttps://boris-portal.unibe.ch/handle/20.500.12422/55908
dc.language.isoen
dc.publisherMDPI
dc.relation.ispartofInternational journal of molecular sciences
dc.relation.issn1422-0067
dc.relation.organizationDCD5A442C266E17DE0405C82790C4DE2
dc.relation.organizationDCD5A442BADAE17DE0405C82790C4DE2
dc.relation.organizationDCD5A442C248E17DE0405C82790C4DE2
dc.subjectAMH DSD FOG2 NR5A1/SF1 STAR disorder/difference of sex development genotype–phenotype correlation oligogenic disorders steroidogenic factor 1
dc.subject.ddc600 - Technology::610 - Medicine & health
dc.subject.ddc500 - Science::570 - Life sciences; biology
dc.titleVariants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.
dc.typearticle
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oaire.citation.issue22
oaire.citation.volume21
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oairecerif.author.affiliationUniversitätsklinik für Kinderheilkunde
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oairecerif.author.affiliation2Department for BioMedical Research, Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)
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unibe.date.licenseChanged2020-12-28 17:20:15
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