Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

• Published in: Pediatric rheumatology online journal Vol. 17; no. 1; pp. 52 - 11
• Main Authors: Tirosh, Irit, Spielman, Shiri, Barel, Ortal, Ram, Reut, Stauber, Tali, Paret, Gideon, Rubinsthein, Marina, Pessach, Itai M., Gerstein, Maya, Anikster, Yair, Shukrun, Rachel, Dagan, Adi, Adler, Katerina, Pode-Shakked, Ben, Volkov, Alexander, Perelman, Marina, Greenberger, Shoshana, Somech, Raz, Lahav, Einat, Majmundar, Amar J., Padeh, Shai, Hildebrandt, Friedhelm, Vivante, Asaf
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 30.07.2019; BioMed Central; BMC
• Subjects: Adolescent; alpha-Mannosidase - genetics; Amino Acid Transport System y+L - genetics; Child; Child, Preschool; Complement C1q - genetics; Diagnosis; Etiology (Medicine); Exome sequencing; Female; Gain of Function Mutation - genetics; Genes; Genetic aspects; Genetic Predisposition to Disease - genetics; Genetic testing; Humans; Intravenous immunoglobulins; Lupus; Lupus erythematosus; Lupus Erythematosus, Systemic - genetics; Male; Monogenic; Mutation - genetics; PTEN Phosphohydrolase - genetics; SLE; STAT1 Transcription Factor - genetics; Systemic lupus erythematosus; WES; Whole Exome Sequencing - methods; WES; Monogenic; SLE

Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to phenotypic and...