Journal article
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights
EJ Tucker, MJ Baker, DH Hock, JT Warren, S Jaillard, KM Bell, R Sreenivasan, S Bakhshalizadeh, CA Hanna, NJ Caruana, SB Wortmann, S Rahman, RDS Pitceathly, J Donadieu, A Alimi, V Launay, P Coppo, S Christin-Maitre, G Robevska, J Van Den Bergen Show all
Journal of Clinical Endocrinology and Metabolism | Published : 2022
Abstract
Context: Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improve health outcomes. Objective: We aimed to determine the genetic cause of syndromic POI, intellectual disability, neutropenia, and cataracts. Methods: We performed whole-exome sequencing (WES) followed by functional validation via RT-PCR, RNAseq, and quantitative proteomics, as well as clinical update of previously reported patients with variants in the caseinolytic peptidase B (CLPB) gene. Results: We identified causative variants in CLPB, encod..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by an National Health and Medical Research Council (NHMRC) program grant (1074258 to A.H.S.), NHMRC grant (1140906 to D.A.S.), NHMRC fellowships (1054432 to E.J.T., 1126995 to R.S., 2009732 to D.A.S., 1062854 to A.H.S.), a Suzi Carp postdoctoral scholarship (to E.J.T.), a CHU Rennes grant (Appel a Projets Innovations 2019 to S.J.), an Australian Government Research Training Program scholarship (to M.J.B.), the Australian Mito Foundation for provision of instrumentation, incubator grants (to E.J.T. and D.S.), a Booster grant (to D.S.) and PhD Top-up scholarships (to M.J.B. and D.H.H.), and a Medical Research Council (UK) Clinician Scientist Fellowship (MR/S002065/1 to R.D.S.P.). S.B.W. was funded by ERAPERMED2019-310-Personalized Mitochondrial Medicine (PerMiM): Optimizing diagnostics and treatment for patients with mitochondrial diseases (FWF 4704-B).