Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene.
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene.
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DOI：
10.3390/jcm10061259
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发表时间：
2021-03-18
影响因子：
3.9
通讯作者：
Fernández-Pombo A
中科院分区：
文献类型：
--
作者：
Araújo-Vilar D;Sánchez-Iglesias S;Castro AI;Cobelo-Gómez S;Hermida-Ameijeiras Á;Rodríguez-Carnero G;Casanueva FF;Fernández-Pombo A
伴有影响LMNA基因外显子8的致病性变异的邓尼根病（FPLD2）患者被认为患有典型疾病，而其他外显子变异的患者则表现为“非典型”疾病。本研究的目的是在比较8外显子携带R482和N466变异的患者时，研究可变表达度的程度。因此，研究了47名FPLD2患者：一组15名携带N466变体的患者，另一组32名携带R482变体的患者。比较两组患者的临床、代谢和身体成分数据。与N466组相比，R482组大腿皮褶厚度显著减少（分别为4.2±1.8和5.6±2.0 mm, p = 0.002），其他体成分无差异。N466变异的患者表现出较高的甘油三酯水平（177.5 [56-1937]vs. 130.0 [55-505] mg/dL, p = 0.029），急性胰腺炎仅出现在这些受试者中（20%）。与疾病相关的其他典型代谢异常存在，而不考虑致病变异。因此，尽管具有R482和N466变异的FPLD2患者具有大多数经典特征，但一些表型和代谢差异表明，即使在LMNA基因的外显子8内也可能存在异质性。
Patients with Dunnigan disease (FPLD2) with a pathogenic variant affecting exon 8 of the LMNA gene are considered to have the classic disease, whereas those with variants in other exons manifest the “atypical” disease. The aim of this study was to investigate the degree of variable expressivity when comparing patients carrying the R482 and N466 variants in exon 8. Thus, 47 subjects with FPLD2 were studied: one group of 15 patients carrying the N466 variant and the other group of 32 patients with the R482 variant. Clinical, metabolic, and body composition data were compared between both groups. The thigh skinfold thickness was significantly decreased in the R482 group in comparison with the N466 group (4.2 ± 1.8 and 5.6 ± 2.0 mm, respectively, p = 0.002), with no other differences in body composition. Patients with the N466 variant showed higher triglyceride levels (177.5 [56–1937] vs. 130.0 [55–505] mg/dL, p = 0.029) and acute pancreatitis was only present in these subjects (20%). Other classic metabolic abnormalities related with the disease were present regardless of the pathogenic variant. Thus, although FPLD2 patients with the R482 and N466 variants share most of the classic characteristics, some phenotypic and metabolic differences suggest possible heterogeneity even within exon 8 of the LMNA gene.
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影响因子：
5.9
作者：
Garg, A;Speckman, RA;Bowcock, AM
通讯作者：
Bowcock, AM
影响因子：
5.8
作者：
Garg, A;Vinaitheerthan, M;Bowcock, AM
通讯作者：
Bowcock, AM
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5.8
作者：
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Vigouroux, Corinne
影响因子：
168.9
作者：
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通讯作者：
Ikram, M. K.
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通讯作者：
Oral, Elif Arioglu