dc.contributor.author | Martínez de la Piscina Martín, Idoia | |
dc.contributor.author | Mahmoud, Rana A. A. | |
dc.contributor.author | Sauter, Kay Sara | |
dc.contributor.author | Esteva, Isabel | |
dc.contributor.author | Alonso, Milagros | |
dc.contributor.author | Costa, Ines | |
dc.contributor.author | Rial Rodíguez, Jóse Manuel | |
dc.contributor.author | Rodríguez Estévez, Amaia | |
dc.contributor.author | Vela Desojo, Amaia | |
dc.contributor.author | Castaño González, Luis Antonio | |
dc.contributor.author | Flück, Christa E. | |
dc.date.accessioned | 2021-02-01T11:00:05Z | |
dc.date.available | 2021-02-01T11:00:05Z | |
dc.date.issued | 2020-11-13 | |
dc.identifier.citation | International Journal Of Molecular Sciences 21(22) : (2020) // Article ID 8554 | es_ES |
dc.identifier.issn | 1422-0067 | |
dc.identifier.uri | http://hdl.handle.net/10810/49973 | |
dc.description.abstract | Variants 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. | es_ES |
dc.description.sponsorship | This research was funded in part by a grant from the Basque Department of Education (IT795-13) and a personal research fellowship grant from the Spanish Pediatric Endocrine Society to IM. Several authors (IM, LC) of this work are members of the European Reference Network for Endo-ERN (Project ID No 739527). RM is supported by a personal research fellowship grant of Science by Women from the Women for Africa foundation. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | MDPI | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | disorder | es_ES |
dc.subject | difference of sex development | es_ES |
dc.subject | DSD | es_ES |
dc.subject | steroidogenic factor 1 | es_ES |
dc.subject | SF1 | es_ES |
dc.subject | STAR | es_ES |
dc.subject | AMH | es_ES |
dc.subject | AMH | es_ES |
dc.subject | FOG2 | es_ES |
dc.subject | oligogenic disorders | es_ES |
dc.subject | genotype– | es_ES |
dc.subject | phenotype correlation | es_ES |
dc.subject | nuclear receptor | es_ES |
dc.subject | sex development | es_ES |
dc.subject | adrenal insufficiency | es_ES |
dc.subject | binding domain | es_ES |
dc.subject | gene | es_ES |
dc.subject | mutations | es_ES |
dc.subject | transcription | es_ES |
dc.subject | SF-1 | es_ES |
dc.title | Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1 | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This is an open access article distributed under the Creative Commons Attribution License (CC BY 4.0) | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://www.mdpi.com/1422-0067/21/22/8554 | es_ES |
dc.identifier.doi | 10.3390/ijms21228554 | |
dc.departamentoes | Medicina | es_ES |
dc.departamentoes | Pediatría | es_ES |
dc.departamentoeu | Medikuntza | es_ES |
dc.departamentoeu | Pediatria | es_ES |