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Abstract：
The term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodystrophy-associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene c.29C>T(p.T10I). This paper reports the first case of GLPS in China and compares the clinical features of other GLPS patients with literature reports. A 16-year-old male patient was treated for diabetic ketoacidosis, presenting with premature aging appearance, systemic lipodystrophy, severe fatty liver, and decreased bone density. After peripheral blood DNA extraction and second-generation sequencing, a heterozygous mutation of exon 1 of the LMNA gene c.29C>T(p.T10I) was detected. This case of GLPS may provide a diagnostic and therapeutic basis for potential patients.
摘要：
术语层粘连蛋白病是指一组以人体组织加速变性为特征的先天性疾病。LMNA突变,LMNB,ZMPSTE24和其他基因导致与层粘连蛋白相关的结构和功能异常。椎板病变的一个亚型是全身性脂肪营养不良相关的孕激素综合征（GLPS），发生在LMNA基因c.29C>T杂合突变的患者中（p。T10I)。本文报道了我国首例GLPS病例,并将其他GLPS患者的临床特征与文献报道进行了比较。一名16岁男性患者因糖尿病酮症酸中毒接受治疗，呈现过早老化的外观，全身性脂肪营养不良，重度脂肪肝,骨密度下降。经过外周血DNA提取和第二代测序，LMNA基因c.29C>T的外显子1的杂合突变（p。检测到T10I)。此例GLPS可能为潜在患者提供诊断和治疗依据。
