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dc.contributor.authorFaridi, Rabia; orcid: 0000-0001-7788-8755
dc.contributor.authorRea, Alessandro; orcid: 0000-0002-6204-846X
dc.contributor.authorFenollar-Ferrer, Cristina; orcid: 0000-0003-4953-8891
dc.contributor.authorO'Keefe, Raymond T; orcid: 0000-0001-8764-1289
dc.contributor.authorGu, Shoujun
dc.contributor.authorMunir, Zunaira; orcid: 0000-0003-3342-9658
dc.contributor.authorKhan, Asma Ali; orcid: 0000-0002-0894-3439
dc.contributor.authorRiazuddin, Sheikh; orcid: 0000-0001-6012-0192
dc.contributor.authorHoa, Michael; orcid: 0000-0001-7469-2909
dc.contributor.authorNaz, Sadaf; orcid: 0000-0002-1912-0235
dc.contributor.authorNewman, William G; orcid: 0000-0002-6382-4678; email: william.newman@manchester.ac.uk
dc.contributor.authorFriedman, Thomas B; orcid: 0000-0003-4614-6630; email: friedman@nidcd.nih.gov
dc.date.accessioned2021-08-16T00:29:07Z
dc.date.available2021-08-16T00:29:07Z
dc.date.issued2021-08-02
dc.date.submitted2021-04-29
dc.identifierpubmed: 34338890
dc.identifierdoi: 10.1007/s00439-021-02319-7
dc.identifierpii: 10.1007/s00439-021-02319-7
dc.identifier.citationHuman genetics
dc.identifier.urihttp://hdl.handle.net/10034/625592
dc.descriptionFrom PubMed via Jisc Publications Router
dc.descriptionHistory: received 2021-04-29, accepted 2021-07-14
dc.descriptionPublication status: aheadofprint
dc.descriptionFunder: Action Medical Research; Grant(s): GN2494
dc.descriptionFunder: NIDCD NIH HHS; Grant(s): DC000039, DC000088
dc.description.abstractHearing 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 and clinical phenotype of Perrault syndrome and focus on supporting evidence for the eight genes (CLPP, ERAL1, GGPS1, HARS2, HSD17B4, LARS2, RMND1, TWNK) associated with Perrault syndrome. Variants of these eight genes only account for approximately half of the individuals with clinical features of Perrault syndrome where the molecular genetic base remains under investigation. Additional environmental etiologies and novel Perrault disease-associated genes remain to be identified to account for unresolved cases. We also report a new genetic variant of CLPP, computational structural insight about CLPP and single cell RNAseq data for eight reported Perrault syndrome genes suggesting a common cellular pathophysiology for this disorder. Some unanswered questions are raised to kindle future research about Perrault syndrome. [Abstract copyright: © 2021. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.]
dc.languageeng
dc.sourceeissn: 1432-1203
dc.titleNew insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
dc.typearticle
dc.date.updated2021-08-16T00:29:07Z
dc.date.accepted2021-07-14


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