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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
J. Savige, H. Storey, E. Watson, JM. Hertz, C. Deltas, A. Renieri, F. Mari, P. Hilbert, P. Plevova, P. Byers, A. Cerkauskaite, M. Gregory, R. Cerkauskiene, DG. Ljubanovic, F. Becherucci, C. Errichiello, L. Massella, V. Aiello, R. Lennon, L....
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články
NLK
Free Medical Journals
od 2009
PubMed Central
od 2009 do Před 1 rokem
Europe PubMed Central
od 2009 do Před 1 rokem
ProQuest Central
od 2000-01-01 do Před 1 rokem
Open Access Digital Library
od 1998-01-01
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
- MeSH
- autoantigeny genetika MeSH
- dědičná nefritida diagnóza genetika MeSH
- fenotyp MeSH
- genetické testování metody normy MeSH
- kolagen typu IV genetika MeSH
- konsensus * MeSH
- lidé MeSH
- směrnice pro lékařskou praxi jako téma * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis (FSGS), familial IgA glomerulonephritis and end-stage kidney failure without an obvious cause. The meeting refined the ACMG criteria for variant assessment for the Alport genes (COL4A3-5). It identified 'mutational hotspots' (PM1) in the collagen IV α5, α3 and α4 chains including position 1 Glycine residues in the Gly-X-Y repeats in the intermediate collagenous domains; and Cysteine residues in the carboxy non-collagenous domain (PP3). It considered that 'well-established' functional assays (PS3, BS3) were still mainly research tools but sequencing and minigene assays were commonly used to confirm splicing variants. It was not possible to define the Minor Allele Frequency (MAF) threshold above which variants were considered Benign (BA1, BS1), because of the different modes of inheritances of Alport syndrome, and the occurrence of hypomorphic variants (often Glycine adjacent to a non-collagenous interruption) and local founder effects. Heterozygous COL4A3 and COL4A4 variants were common 'incidental' findings also present in normal reference databases. The recognition and interpretation of hypomorphic variants in the COL4A3-COL4A5 genes remains a challenge.
Birmingham Children's Hospital Birmingham UK
Bristol Genetics Laboratory Pathology Sciences Southmead Hospital Bristol UK
Bristol Renal Unit Bristol Medical School University of Bristol Bristol UK
Center for Human Genetics University Hospitals and KU Leuven Leuven Belgium
Centre for Nephrology and Metabolic Disorders Weisswasser Germany
Centre for Rare Diseases and Clinical Genetics Unit Medical University of Gdansk Gdansk Poland
Department of Biology School of Medicine University of Zagreb Zagreb Croatia
Department of Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands
Department of Medicine The University of Melbourne Parkville VIC Australia
Department of Nephrology and Renal Transplantation University Hospitals Leuven Leuven Belgium
Departments of Pathology and Medicine University of Washington Seattle WA USA
Division of Nephrology and Dialysis Bambino Gesù Children's Hospital IRCCS Rome Italy
Division of Nephrology and Dialysis University Hospital of Verona Verona Italy
Division of Nephrology Department of Medicine University of Utah Health Salt Lake City UT USA
Elizabeth Watson South West Genomic Laboratory Hub North Bristol Trust Bristol UK
Fundeni Clinical Institute Pediatric Nephrology Department Bucharest Romania
Health Sciences Centre University of UTAH Salt Lake City UT USA
Inherited Kidney Disorders Fundacio Puigvert Universitat Autonoma de Barcelona Barcelona Spain
Institute de Pathologie et de Genetique ASBL Departement de Biologie Moleculaire Gosselies Belgium
Institute of Biomedical Sciences Faculty of Medicine Vilnius University Vilnius Lithuania
Institute of Human Genetics Technical University of Munich München Germany
Jens Michael Hertz Department of Clinical Genetics Odense University Hospital Odense Denmark
Medical Genetics Unit Meyer Children's University Hospital Florence Italy
Medical Genetics University of Siena Siena Italy
Molecular Genetics Viapath Laboratories Guy's Hospital London UK
Nephrology Unit and Meyer Children's University Hospital Firenze Italy
Nephrology Unit University of Campania Naples Italy
North East Thames Regional Genetics Laboratory Great Ormond Street Hospital London UK
School of Immunology and Microbial Sciences Faculty of Life Sciences King's College London London UK
Citace poskytuje Crossref.org
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