Journal article
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies
LS Akesson, R Rius, NJ Brown, J Rosenbaum, S Donoghue, M Stormon, C Chai, E Bordador, Y Guo, H Hakonarson, AG Compton, DR Thorburn, S Amarasekera, J Marum, A Monaco, C Lee, B Chong, S Lunke, Z Stark, J Christodoulou
Jimd Reports | Published : 2022
DOI: 10.1002/jmd2.12280
Abstract
Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist in variant reclassification, however these studies are not readily available and often rely on research funding and good will. We present four individuals from three families at different stages of their diagnostic trajectory with recurrent acute liver failure (RALF) and biallelic NBAS variants, confirmed by either trio analysis or cDNA studies. Functional characterization was undertaken, measuring NBAS and p31 levels by Western blotting, demonstrating red..
View full abstractRelated Projects (2)
Grants
Awarded by Children's Hospital of Philadelphia
Funding Acknowledgements
This research was funded by a grant from the Australian Genomics Health Alliance, which is funded by the National Health and Medical Research Council (NHMRC) 1113531 (J.C., D.R.T.) as well as other NHMRC grants and fellowships 1164479 (D.R.T., J.C.); 1155244 (D.R.T.), plus grants from the US Department of Defense Congressionally Directed Medical Research Programs PR170396 (D.R.T., J.C.), the Australian Mito Foundation (A.G.C., D.R.T., J.C.), the Vincent Chiodo Charitable Trust (D.R.T.) and the New South Wales Office of Health and Medical Research Council Sydney Genomics Collaborative grant (J.C.). The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children's Hospital Foundation. The Australian Genomics Health Alliance (Australian Genomics) Acute Care project was funded by grant GNT1113531 from the National Health and Medical Research Council Targeted Call for Research, grant 2017-906 from the Royal Children's Hospital Foundation, and unspecified grants from the Sydney Children's Hospital Network and the Channel 7 Children's Research Foundation. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian government's operational infrastructure support program. Whole exome sequencing and data analysis for individual B1 and B2 were done in the Center for Applied Genomics at the Children's Hospital of Philadelphia through research funding from Aevi Genomic Medicine Inc. We are grateful to the Crane and Perkins families for their generous financial support.