Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

NR5A1/SF-1 (Steroidogenic factor-1) variants may cause mild to severe differences of sex development (DSD) or may be found in healthy carriers. The NR5A1/SF-1 c.437G>C/p.Gly146Ala variant is common in individuals with a DSD and has been suggested to act as a susceptibility factor for adrenal dise...

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Veröffentlicht in:	PloS one 2023-07, Vol.18 (7), p.e0287515-e0287515
Hauptverfasser:	Martinez de Lapiscina, Idoia, Kouri, Chrysanthi, Aurrekoetxea, Josu, Sanchez, Mirian, Naamneh Elzenaty, Rawda, Sauter, Kay-Sara, Camats, Núria, Grau, Gema, Rica, Itxaso, Rodriguez, Amaia, Vela, Amaia, Cortazar, Alicia, Alonso-Cerezo, Maria Concepción, Bahillo, Pilar, Bertholt, Laura, Esteva, Isabel, Castaño, Luis, Flück, Christa E
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Analysis Biology and Life Sciences Causality Cryptorchidism Disease Disease susceptibility Disorders of Sex Development - genetics Fibroblast growth factor receptors Functional testing Gene frequency Genes Genetic polymorphisms Genetic screening Genomics Genotype & phenotype Humans Male Medicine and Health Sciences Methods Mutation Next-generation sequencing Pathogenesis Patients Phenotypes Polygenic inheritance Polymorphism Population genetics Proteins Reproductive organs Sex Sexual Development Software Steroidogenic Factor 1 - genetics Susceptibility Type 2 diabetes
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