Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.

Autor: Groopman E; Children's National Hospital, Washington, DC, USA., Mohan S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Waddell A; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Wilke M; Mayo Clinic, Rochester, MN, USA., Fernandez R; American College of Genetics and Genomics, Bethesda, MD, USA., Weaver M; American College of Genetics and Genomics, Bethesda, MD, USA., Chen H; PreventionGenetics/Exact Sciences, Marshfield, WI, USA., Liu H; Revvity, Pittsburgh, PA, USA., Bali D; Duke University Health System, Durham, NC, USA., Baudet H; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Clarke L; University of British Columbia, Vancouver, Canada., Hung C; Invitae, San Francisco, CA, USA., Mao R; ARUP, Salt Lake City, UT, USA; University of Utah, Salt Lake City, UT, USA., Pinto E Vairo F; Mayo Clinic, Rochester, MN, USA., Racacho L; Alberta Precision Laboratories, Alberta, Canada., Yuzyuk T; ARUP, Salt Lake City, UT, USA; University of Utah, Salt Lake City, UT, USA., Craigen WJ; Baylor College of Medicine, Houston, TX, USA., Goldstein J; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. Electronic address: jennifer.goldstein@unc.edu.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism [Mol Genet Metab] 2024 Nov; Vol. 143 (3), pp. 108593. Date of Electronic Publication: 2024 Oct 12.
DOI: 10.1016/j.ymgme.2024.108593
Abstrakt: Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted therapies early in the disease process in addition to providing prognostic information and appropriate support for families. In recent years, genomic sequencing technologies have become the first-line approach in the diagnosis of LDs. Understanding the clinical validity of the role of a gene in a disease is critical for the development of genomic technologies, such as which genes to include on next generation sequencing panels, and the interpretation of results from exome and genome sequencing. To this aim, the ClinGen Lysosomal Diseases Gene Curation Expert Panel utilized a semi-quantitative framework incorporating genetic and experimental evidence to assess the clinical validity of the 56 LD-associated genes on the Lysosomal Disease Network's list. Here, we describe the results, and the key themes and challenges encountered.
Competing Interests: Declaration of competing interest D.B., H.C., C.H., R.M., and T.Y., are employed by laboratories offering fee-for-service testing related to the work of the ClinGen Lysosomal Diseases Gene Curation Expert Panel. L.C. is a paid consultant with Genzyme/Sanofi related to the MPS I (IDUA) registry. C.H. is involved in research on NPC1. There are no other financial disclosures.
(Copyright © 2024 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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