Donlin LT, Park SH, Giannopoulou E, Ivovic A, Park-Min KH, Siegel RM, et al. Insights into rheumatic diseases from next-generation sequencing. Nat Rev Rheumatol 2019;15:327–39.
Article PubMed PubMed Central Google Scholar
Wiley GB, Kelly JA, Gaffney PM. Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease. Arthritis Res Ther. 2014;16(490).
Thompson R, Spendiff S, Roos A, Bourque PR, Warman Chardon J, Kirschner J, et al. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol 2020;19:522–32.
Article CAS PubMed Google Scholar
Veatch OJ, Steinle J, Hossain WA, Butler MG. Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study. BMC Med Genomics. 2022;15(1).
Mäkitie RE, Costantini A, Kämpe A, Alm JJ, Mäkitie O. New insights into monogenic causes of osteoporosis. Front Endocrinol (Lausanne). 2019;10.
Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol 2022;42:1508–20.
Notarangelo LD, Bacchetta R, Casanova JL, Su HC. Human inborn errors of immunity: an expanding universe. Sci Immunol. 2020;5(49).
Chan AY, Torgerson TR. Primary immune regulatory disorders: a growing universe of immune dysregulation. Curr Opin Allergy Clin Immunol. 2020;20(6):582–90.
Article PubMed PubMed Central Google Scholar
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. NEJM 2020;383:2628–38.
Article CAS PubMed Google Scholar
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, et al. Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population. JAMA 2023;329:318–24.
Article CAS PubMed PubMed Central Google Scholar
Eyre S, Orozco G, Worthington J. The genetics revolution in rheumatology: large scale genomic arrays and genetic mapping. Nat Rev Rheumatol. 2017;13(7):421–32.
Article CAS PubMed Google Scholar
Schnappauf O, Aksentijevich I. Current and future advances in genetic testing in systemic autoinflammatory diseases. Rheumatology (United Kingdom). 2019;58:VI44–55.
Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022;14(1).
Bannister AJ, Kouzarides T. Regulation of chromatin by histone modifications. Cell Res. 2011;21(3):381–95.
Article CAS PubMed PubMed Central Google Scholar
Koellner CM, Mensink KA, Highsmith WE. Basic concepts in human molecular genetics. In: Molecular Pathology: the Molecular Basis of Human Disease. Elsevier Inc.; 2018. pp. 99–120.
Carthew RW, Sontheimer EJ. Origins and mechanisms of miRNAs and siRNAs. Cell. 2009;136(4):642–55.
Article CAS PubMed PubMed Central Google Scholar
Irimia M, Roy SW. Origin of spliceosomal introns and alternative splicing. Cold Spring Harb Perspect Biol. 2014;6(6).
Acuna-Hidalgo R, Veltman JA, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biol. BioMed Central Ltd.. 2016;17.
Hoffman HM, Broderick L. Editorial: it just takes one: somatic mosaicism in autoinflammatory disease. Arthritis Rheumatol. 2017;69(2):253–56.
Article PubMed PubMed Central Google Scholar
Ma CS, Tangye SG. Inborn errors of immunity: the Goldilocks effect-susceptibility to disease due to a little too much or a little too little. Clin Exp Immunol. 2023;212(2):93–95.
Article PubMed PubMed Central Google Scholar
Vorsteveld EE, Hoischen A, van der Made CI. Next-generation sequencing in the field of primary immunodeficiencies: current yield, challenges, and future perspectives. Clin Rev Allergy Immunol. 2021;61(2):212–25.
Article PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–24.
Article PubMed PubMed Central Google Scholar
Brookes AJ. Single Nucleotide Polymorphism (SNP). In: Encyclopedia of Life Sciences. 2005.
Quinodoz M, Peter VG, Cisarova K, Royer-Bertrand B, Stenson PD, Cooper DN, et al. Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. Am J Hum Genet 2022;109:457–70.
Article CAS PubMed PubMed Central Google Scholar
Iqbal S, Pérez-Palma E, Jespersen JB, May P, Hoksza D, Heyne HO, et al. Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants. Proc Natl Acad Sci U S A 2020;117:28201–11.
Article CAS PubMed PubMed Central Google Scholar
Torella A, Zanobio M, Zeuli R, Del Vecchio Blanco F, Savarese M, Giugliano T, et al. The position of nonsense mutations can predict the phenotype severity: a survey on the DMD gene. PLoS One 2020;15:e0237803.
Article CAS PubMed PubMed Central Google Scholar
Roth JR. Frameshift mutations. 1974; Available from: www.annualreviews.org
Marasco LE, Kornblihtt AR. The physiology of alternative splicing. Nat Rev Mol Cell Biol. 2023;24(4):242–54.
Article CAS PubMed Google Scholar
Lord J, Baralle D. Splicing in the diagnosis of rare disease: advances and challenges. Front Genet. 2021;12:689892.
Article CAS PubMed PubMed Central Google Scholar
Miyazawa H, Wada T. Reversion mosaicism in primary immunodeficiency diseases. Front Immunol. 2021;12.
Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum 2012;64:895–907.
Article CAS PubMed PubMed Central Google Scholar
Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001;9(7):473–83.
Cuisset L, Drenth JP, Simon A, Vincent MF, Van Der Velde Visser S, Van Der Meer WM, et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 2001.
Barron KS, Aksentijevich I, Deuitch NT, Stone DL, Hoffmann P, Videgar-Laird R, et al. The spectrum of the deficiency of Adenosine Deaminase 2: an observational analysis of a 60 patient cohort. Front Immunol. 2022;12.
Lee Y, Wessel AW, Xu J, Reinke JG, Lee E, Kim SM, et al. Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype. J Clin Investig. 2022;132(6).
Davis BR, Dicola MJ, Prokopishyn NL, Rosenberg JB, Moratto D, Muul LM, et al. Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome. Blood 2008;111:5064–67.
Article CAS PubMed PubMed Central Google Scholar
Torgerson T, Ochs H. Genetics of primary immune deficiencies. In: Stiehm’s Immune Deficiencies. Elsevier Inc.; 2014. pp. 73–81.
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat 2012;33:1228–38.
Article CAS PubMed Google Scholar
Quaio CRDC, Ceroni JRM, Pereira MA, Teixeira ACB, Yamada RY, Cintra VP, et al. The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023. Hum Genomics. 2023;17(1).
Eilbeck K, Quinlan A, Yandell M. Settling the score: variant prioritization and Mendelian disease. Nat Rev Genet. 2017;18(10):599–612.
Article CAS PubMed PubMed Central Google Scholar
Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M, et al. Variant interpretation using population databases: lessons from gnomAD. Hum Mutat 2022;43:1012–30.
Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004;24:194–98.
Comments (0)