Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study

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dc.authoridOzan Özkaya / 0000-0002-0198-1221
dc.authorscopusidOzan Özkaya / 7003365098
dc.authorwosidOzan Özkaya / DKK-1373-2022
dc.contributor.authorKaracan, İlker
dc.contributor.authorBalamir, Ayşe
dc.contributor.authorUğurlu, Serdal
dc.contributor.authorAydın, Aslı Kireçtepe
dc.contributor.authorEverest, Elif
dc.contributor.authorZor, Seyit
dc.contributor.authorÖnen, Merve Özkılınç
dc.contributor.authorDaşdemir, Selçuk
dc.contributor.authorÖzkaya, Ozan
dc.contributor.authorSözeri, Betül
dc.contributor.authorTufan, Abdurrahman
dc.contributor.authorYıldırım, Deniz Gezgin
dc.contributor.authorYüksel, Selçuk
dc.contributor.authorAyaz, Nuray Aktay
dc.contributor.authorÖmeroğlu, Rukiye Eker
dc.contributor.authorÖztürk, Kübra
dc.contributor.authorÇakan, Mustafa
dc.contributor.authorSöylemezoğlu, Oğuz
dc.contributor.authorŞahin, Sezgin
dc.contributor.authorBarut, Kenan
dc.contributor.authorAdrovic, Amra
dc.contributor.authorSeyahi, Emire
dc.contributor.authorÖzdogan, Huri
dc.contributor.authorKasapçopur, Özgür
dc.contributor.authorTuranlı, Eda Tahir
dc.date.accessioned2020-08-30T20:06:49Z
dc.date.available2020-08-30T20:06:49Z
dc.date.issued2019
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractSystemic autoinflammatory diseases (sAIDs) are a heterogeneous group of disorders, having monogenic inherited forms with overlapping clinical manifestations. More than half of patients do not carry any pathogenic variant in formerly associated disease genes. Here, we report a cross-sectional study on targeted Next-Generation Sequencing (NGS) screening in patients with suspected sAIDs to determine the diagnostic utility of genetic screening. Fifteen autoinflammation/immune-related genes (ADA2-CARD14-IL10RA-LPIN2-MEFV-MVK-NLRC4-NLRP12-NLRP3-NOD2-PLCG2-PSTPIP1-SLC29A3-TMEM173-TNFRSF1A) were used to screen 196 subjects from adult/pediatric clinics, each with an initial clinical suspicion of one or more sAID diagnosis with the exclusion of typical familial Mediterranean fever (FMF) patients. Following the genetic screening, 140 patients (71.4%) were clinically followed-up and re-evaluated. Fifty rare variants in 41 patients (20.9%) were classified as pathogenic or likely pathogenic and 32 of those variants were located on the MEFV gene. We detected pathogenic or likely pathogenic variants compatible with the final diagnoses and inheritance patterns in 14/140 (10%) of patients for the following sAIDs: familial Mediterranean fever (n=7), deficiency of adenosine deaminase 2 (n=2), mevalonate kinase deficiency (n=2), Muckle-Wells syndrome (n=1), Majeed syndrome (n=1), and STING-associated vasculopathy with onset in infancy (n=1). Targeted NGS panels have impact on diagnosing rare monogenic sAIDs for a group of patients. We suggest that MEFV gene screening should be first-tier genetic testing especially in regions with high carrier rates. Clinical utility of multi-gene testing in sAIDs was as low as expected, but extensive genome-wide familial analyses in combination with exome screening would enlighten additional genetic factors causing disease.en_US
dc.description.sponsorshipIstanbul University Scientific Research FundIstanbul University [49820, BYP-2017-22876]en_US
dc.description.sponsorshipThis study was funded by Istanbul University Scientific Research Fund (Grants: 49820 and BYP-2017-22876).en_US
dc.identifier.citationKaracan, İ., Balamir, A., Uğurlu, S., Aydın, A. K., Everest, E., Zor, S., ... & Tufan, A. (2019). Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. Rheumatology international, 39(5), 911-919.en_US
dc.identifier.doi10.1007/s00296-019-04252-5en_US
dc.identifier.endpage919en_US
dc.identifier.issn0172-8172en_US
dc.identifier.issn1437-160Xen_US
dc.identifier.issue5en_US
dc.identifier.pmid30783801en_US
dc.identifier.scopus2-s2.0-85061759342en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage911en_US
dc.identifier.urihttps://doi.org/10.1007/s00296-019-04252-5
dc.identifier.urihttps://hdl.handle.net/20.500.12713/630
dc.identifier.volume39en_US
dc.identifier.wosWOS:000466048800017en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorÖzkaya, Ozanen_US
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofRheumatology Internationalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHereditary Autoinflammatory Diseasesen_US
dc.subjectMefv Geneen_US
dc.subjectGenetic Testingen_US
dc.subjectSequence Analysisen_US
dc.titleDiagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center studyen_US
dc.typeArticleen_US

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