目的 探讨1例PSMD12基因变异所致的STISS综合征患儿的临床表型和遗传学特点。 方法 对2020年10月4日在上海交通大学医学院附属上海儿童医学中心就诊诊断的1例STISS患儿的临床资料及基因检测结果进行分析，并对STISS综合征进行文献回顾。 结果 患者PSMD12基因存在杂合无义变异c.601C>T(p.Arg201*)，国内既往未见报道，且患者身高与文献报道差异较大。 结论 患儿严重身材矮小是否为国内PSMD12基因变异的临床特征还有待进一步的探究，生长激素治疗对其的有效性和安全性仍有待于观察。 Objective To investigate the clinical and genetic characteristics of a patient with STISS syndrome due to variant of PSMD12 gene. Methods Clinical data and result of genetic testing of a patient who was admitted to Shanghai Children′s Medical Center, Shanghai Jiaotong University School of Medicine on October 4, 2020 were analyzed, together with a review of relevant literature. Results The patient was found to harbor a heterozygous c. 601C>T (p.Arg201*) nonsense variant of thePSMD12 gene, which was unreported previously. Clinically, the height of the patient has differed significantly from reported in the literature. Conclusion An extremely rare case of STISS syndrome due to variant of the PSMD12 gene has been diagnosed. Whether the severely short stature is part of the clinical spectrum for PSMD12 gene variants needs to be further explored, and the efficacy and safety of growth hormone therapy has yet to be determined.
Abstract
Objective To investigate the clinical and genetic characteristics of a patient with STISS syndrome due to variant of PSMD12 gene. Methods Clinical data and result of genetic testing of a patient who was admitted to Shanghai Children′s Medical Center, Shanghai Jiaotong University School of Medicine on October 4, 2020 were analyzed, together with a review of relevant literature. Results The patient was found to harbor a heterozygous c. 601C>T (p.Arg201*) nonsense variant of thePSMD12 gene, which was unreported previously. Clinically, the height of the patient has differed significantly from reported in the literature. Conclusion An extremely rare case of STISS syndrome due to variant of the PSMD12 gene has been diagnosed. Whether the severely short stature is part of the clinical spectrum for PSMD12 gene variants needs to be further explored, and the efficacy and safety of growth hormone therapy has yet to be determined.
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