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ARD: Loss-of-function variants in SAT1 cause X-linked childhood systemic lupus erythematosus

 Last Update: 2022-09-06
 Source: Internet
 Author: User

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Objective: Families with multiple childhood systemic lupus erythematosus (SLE) episodes may have a strong genetic predisposition

METHODS: Sanger sequencing validated two ultra-rare predicted pathogenic risk variants identified by WES and additional variants in 562 additional SLE patients

RESULTS: These two familial ultra-rare, predicted loss-of-function (LOF) SAT1 variants exhibited X-linked recessive Mendelian inheritance in two unrelated African American families

Conclusions: This study identifies two novel SAT1 loss-of-function (LOF) variants, shows the ability of frameshift mutations to confer lupus, highlights the pathogenic role of dysregulated polyamine catabolism, and identifies SAT1 LOF variants for a new monogenic cause of SLE

Source: Xu L, Zhao J, Sun Q, Xu X, Wang L, Liu T, Wu Y, Zhu J, Geng L, Deng Y, Awgulewitsch A, Kamen DL, Oates JC, Raj P, Wakeland EK, Scofield RH, Guthridge JM, James JA, Hahn BH, McCurdy DK, Wang F, Zhang M, Tan W, Gilkeson GS, Tsao BP.

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