{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Faridi R"],"funding":["Intramural NIH HHS","Action Medical Research","NIDCD NIH HHS","National Institute on Deafness and Other Communication Disorders"],"pagination":["805-819"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11330641"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["141(3-4)"],"pubmed_abstract":["Hearing loss and impaired fertility are common human disorders each with multiple genetic causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault syndrome, co-occur in a person. Perrault syndrome is inherited as an autosomal recessive disorder characterized by bilateral mild to severe childhood sensorineural hearing loss with variable age of onset in both sexes and ovarian dysfunction in females who have a 46, XX karyotype. Since the initial clinical description of Perrault syndrome 70 years ago, the phenotype of some subjects may additionally involve developmental delay, intellectual deficit and other neurological disabilities, which can vary in severity in part dependent upon the genetic variants and the gene involved. Here, we review the molecular genetics"],"journal":["Human genetics"],"pubmed_title":["New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder."],"pmcid":["PMC11330641"],"funding_grant_id":["DC000039","T32 DC000039","DC000088","2494","Z01 DC000039","GN2494"],"pubmed_authors":["Khan AA","Gu S","Riazuddin S","Naz S","Faridi R","Fenollar-Ferrer C","O'Keefe RT","Newman WG","Rea A","Hoa M","Friedman TB","Munir Z"],"additional_accession":[]},"is_claimable":false,"name":"New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.","description":"Hearing loss and impaired fertility are common human disorders each with multiple genetic causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault syndrome, co-occur in a person. Perrault syndrome is inherited as an autosomal recessive disorder characterized by bilateral mild to severe childhood sensorineural hearing loss with variable age of onset in both sexes and ovarian dysfunction in females who have a 46, XX karyotype. Since the initial clinical description of Perrault syndrome 70 years ago, the phenotype of some subjects may additionally involve developmental delay, intellectual deficit and other neurological disabilities, which can vary in severity in part dependent upon the genetic variants and the gene involved. Here, we review the molecular genetics","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2026-04-22T03:22:04.999Z","creation":"2025-05-18T12:15:14.88Z"},"accession":"S-EPMC11330641","cross_references":{"pubmed":["34338890"],"doi":["10.1007/s00439-021-02319-7"]}}