Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus

The Journal of Rheumatology
Ezgi Deniz BatuSeza Ozen

Abstract

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder. Early-onset, familial, and/or syndromic SLE may reveal monogenic pathologies. The aim of this study was to examine genetic associations in patients with early-onset or familial SLE. We enrolled 7 SLE cases (from different families) with disease onset ≤ 5 years of age and family history consistent with an autosomal recessive inheritance. Whole exome sequencing (WES) was performed in 6 index cases. Suspected variants were confirmed by Sanger sequencing. We did not perform WES in 1 patient who had features similar to the first 3 cases; only the exons of C1QA, C1QB, and C1QC were screened with Sanger sequencing. We demonstrated 2 novel and 3 previously reported variants in genes associated with SLE: a homozygous non-sense alteration (c.622C>T/p.Gln208Ter) in C1QA in 2 patients; homozygous non-sense alteration (c.79C>T/p.Gln27Ter) in C1QC in 1 (novel variant); homozygous missense alteration (c.100G>A/p.Gly34Arg) in C1QC in 1; homozygous missense alteration (c.1945G>C/p.Ala649Pro) in C1S in 1 (novel variant); and homozygous frameshift alteration (c.289_290delAC/p.Thr97Ilefs*2) in DNASE1L3 in 1 patient. Further, in 1 patient, we determined a strong candidate vari...Continue Reading

References

Apr 21, 1988·Nature·A R Duncan, G Winter
Feb 13, 1997·Biochemical and Biophysical Research Communications·Z ZengY Li
Jan 13, 1998·Nature Genetics·D GarrickE Whitelaw
Oct 20, 1998·Immunobiology·F Petry
Jun 3, 2000·Nature Genetics·M NapireiT Möröy
Nov 18, 2000·Advances in Immunology·M C PickeringM J Walport
Feb 24, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·J S NavratilJ M Ahearn
Jun 8, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·M A Dragon-DureyW H Fridman
Aug 2, 2001·Nature Genetics·K YasutomoY Kuroda
Mar 27, 2004·Protein Science : a Publication of the Protein Society·Wei-Jung ChenTa-Hsiu Liao
Dec 14, 2007·Autoimmunity·Bahram NamjouJohn B Harley
Jan 22, 2008·The New England Journal of Medicine·Geoffrey HomTimothy W Behrens
Jan 22, 2008·Nature Genetics·UNKNOWN International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN)Jennifer A Kelly
Nov 14, 2008·Biochemistry·Mihaela G GadjevaMihaela S Kojouharova
Nov 26, 2008·Autoimmunity Reviews·Guillaume Bussone, Luc Mouthon
Jan 19, 2011·Rheumatology International·Eun-Mi KimSang-Cheol Bae
Feb 18, 2011·Molecular Medicine·Christopher M ReillyNilamadhab Mishra
Apr 20, 2011·Pediatrics·Timothy B NiewoldLauren M Pachman
Oct 25, 2011·Nature Genetics·Sulaiman M Al-MayoufFowzan S Alkuraya
Aug 14, 2012·Pediatric Rheumatology Online Journal·Alexandre Belot, Rolando Cimaz
May 15, 2013·Arthritis and Rheumatism·Z Birsin OzçakarMustafa Tekin
Apr 3, 2014·Cold Spring Harbor Perspectives in Biology·Edward Seto, Minoru Yoshida
May 13, 2014·Current Allergy and Asthma Reports·Angela R Bryan, Eveline Y Wu
Apr 8, 2015·Molecular Immunology·Mihaela StegertMarten Trendelenburg
Jun 30, 2015·Journal of Autoimmunity·Rosanne A van SchaarenburgLeendert A Trouw
Nov 14, 2015·Journal of Clinical Immunology·Sagar BhattadSurjit Singh
Jan 9, 2016·Human Genetics·Janine MeienbergGabor Matyas
Nov 5, 2016·Current Rheumatology Reports·Mindy S Lo

❮ Previous
Next ❯

Citations

Dec 7, 2018·The Journal of Rheumatology·Linda T Hiraki
Jan 4, 2019·Rheumatology International·Amra Adrovic, Ozgur Kasapcopur
Feb 12, 2021·Journal of Medicinal Chemistry·Jeffrey Y W MakDavid P Fairlie
Mar 31, 2021·The Journal of Experimental Medicine·Johannes HartlBoris Reizis
May 12, 2021·Pediatric Rheumatology Online Journal·Martina GirardelliAlberto Tommasini
Aug 8, 2021·Journal of Clinical Medicine·Anna WajdaAgnieszka Paradowska-Gorycka
Nov 9, 2021·Zeitschrift für Rheumatologie·Tobias Alexander, Christian M Hedrich

❮ Previous
Next ❯

Related Concepts

Related Feeds

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.