{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Sirokha D"],"funding":["Simons Foundation","Swiss National Science Foundation","National Academy of Sciences of Ukraine"],"pagination":["11575"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12692329"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(23)"],"pubmed_abstract":["46,XY gonadal dysgenesis, characterised by absent or defective testicular development in individuals with a 46,XY karyotype, results from disruptions in the genetic programme governing testis determination and differentiation during embryogenesis. While monogenic causes explain approximately 50% of cases, emerging evidence suggests an oligogenic basis in some patients. However, many cases remain without a definitive molecular diagnosis. In this study, we investigated a patient with 46,XY gonadal dysgenesis to explore the underlying genetic aetiology. Whole-exome sequencing in the patient did not reveal any pathogenic variants in genes previously associated with this condition. Instead, it detected rare variants in <i>STARD9</i> and <i>CDK5RAP2</i>, which encode centrosomal proteins known t"],"journal":["International journal of molecular sciences"],"pubmed_title":["STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis."],"pmcid":["PMC12692329"],"funding_grant_id":["SCOPES IZ73Z0_152347/1","1290589","152347","0121U110054"],"pubmed_authors":["Kusz-Zamelczyk K","Gorodna O","Mayere C","Samson O","Sirokha D","Lemanska Z","Livshits L","Khalangot M","Kwiatkowska K","Kalynovskyi V","Nef S","Rayevsky A","Kunik A"],"additional_accession":[]},"is_claimable":false,"name":"STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis.","description":"46,XY gonadal dysgenesis, characterised by absent or defective testicular development in individuals with a 46,XY karyotype, results from disruptions in the genetic programme governing testis determination and differentiation during embryogenesis. While monogenic causes explain approximately 50% of cases, emerging evidence suggests an oligogenic basis in some patients. However, many cases remain without a definitive molecular diagnosis. In this study, we investigated a patient with 46,XY gonadal dysgenesis to explore the underlying genetic aetiology. Whole-exome sequencing in the patient did not reveal any pathogenic variants in genes previously associated with this condition. Instead, it detected rare variants in <i>STARD9</i> and <i>CDK5RAP2</i>, which encode centrosomal proteins known t","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-05-26T20:02:49.989Z","creation":"2026-05-24T03:12:19.442Z"},"accession":"S-EPMC12692329","cross_references":{"pubmed":["41373726"],"doi":["10.3390/ijms262311575"]}}