Al-Mayouf Sulaiman M, AlTassan Ruqaiah S, AlOwain Mohammed A
Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, Alfaisal University, Po Box 3354, Riyadh, 11211, Saudi Arabia.
Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Clin Rheumatol. 2020 Nov;39(11):3511-3515. doi: 10.1007/s10067-020-05205-1. Epub 2020 Jun 6.
Genetic defect of phosphatase and tensin homolog (PTEN) gene might play a role in B cell hyperactivity and result in the development of systemic lupus erythematosus (SLE), while transaldolase deficiency has a spectrum of clinical features including autoimmune endocrinopathy. Herein, we identified a novel phenotype in a girl presenting with clinical and laboratory findings consistent with SLE. Exome sequencing identified pathogenic heterozygous variant in PTEN gene (NM_000314: exon 6: c.518G > C: p. R173P) and homozygous variant in TALDO1 gene (NM_006755: exon 6: c.793C del: p. Q265f). Our report highlights the association of PTEN mutation and autoimmunity and the possibility that transaldolase deficiency may be indirectly involved in the development of SLE.
磷酸酶和张力蛋白同源物（PTEN）基因的遗传缺陷可能在B细胞功能亢进中起作用，并导致系统性红斑狼疮（SLE）的发生，而转醛醇酶缺乏症具有一系列临床特征，包括自身免疫性内分泌病。在此，我们在一名具有与SLE一致的临床和实验室检查结果的女孩中发现了一种新的表型。外显子组测序在PTEN基因（NM_000314：外显子6：c.518G＞C：p.R173P）中鉴定出致病性杂合变异，在TALDO1基因（NM_006755：外显子6：c.793C缺失：p.Q265f）中鉴定出纯合变异。我们的报告强调了PTEN突变与自身免疫的关联，以及转醛醇酶缺乏症可能间接参与SLE发生的可能性。
