Genetics

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Next Generation Sequencing-based Panel Screening in Patients with Undifferentiated Autoinflammatory Diseases: Friend or Foe?

Friday, June 16
6:15 PM - 7:30 PM

A relevant number of patients with clinical phenotype clearly consistent with an autoinflammatory diseases cannot be identified on the molecular basis. Aim of this study is to test a next generation sequencing (NGS)-based clinically-oriented protocol in these patients. We designed a NGS panel of 41 genes clustered in seven subsets according to the clinical phenotypes usually associated with their mutation (i. periodic fever, ii. chronic urticaria, iii. skin/bone/joints involvement, iv. intestinal involvement, v. type 1 interferonopathies and familial lupus, vi. Aicardi-Goutières syndrome, vii. miscellaneous). Patients were classified into one or more clinical subsets according to their clinical features and then massively sequenced for the coding portions of 41 genes. Each variant of the genes included in the selected clinical subsets was confirmed by Sanger method. Fifty patients (27 M, 23 F) were enrolled. All patients were already screened for at least one gene (mean 3; range 1-7). The mean age was 12.5 years (range 5-38) with mean duration of disease of eight years. The vast majority (43 patients; 86%) displayed periodic fever episodes; five (10%) a prevalent skin/bone/joints involvement without fever; one a prevalent intestinal involvement. Seven patients (14%) were suspected of type 1 interferonopathies. In total 128 variants were found (mean 3 for patient; range 0-7), of which only 29 (23%) in genes belonging to the suspected clinical subsets. Variants with suspected pathogenic relevance were found in 8 patients (16%). In this sample of highly selected patients, our NGS-based clinically-oriented protocol was associated with a good molecular diagnosis rate.

Riccardo Papa

UOC Pediatric Rheumatology, Lab Immunology Rheumatic Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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    Marta Rusmini

    UOC Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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      Stefano Volpi

      UOC Pediatric Rheumatology, Lab Immunology Rheumatic Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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        Alice Grossi

        UOC Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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          Francesco Caroli

          UOC Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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            Roberta Caorsi

            UOC Pediatric Rheumatology, Lab Immunology Rheumatic Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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              Silvia Federici

              UOC Pediatric Rheumatology, Lab Immunology Rheumatic Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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                Martina Finetti

                UOC Pediatric Rheumatology, Lab Immunology Rheumatic Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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                  Roberto Ravazzolo

                  UOC Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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                    Isabella Ceccherini

                    UOC Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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                      Marco Gattorno

                      UOC Pediatric Rheumatology, Lab Immunology Rheumatic Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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