LMNA gene encodes A-type lamins and the encoded proteins join the structure of the nuclear lamina and affect the processes of nuclear homeostasis, DNA replication, repair, transcription, and apoptosis. LMNA variants cause a heterogeneous group of diseases known as laminopathies. Phenotypes associated with LMNA variants mainly affect the heart, skeleton, skin, bones, and nervous system. The affected tissues may vary depending on the site of the variant on the gene and the variation type. Complex phenotypes may also occur in some cases, in which findings of premature aging, cardiomyopathy, mandibuloacral dysplasia, lipodystrophy, renal involvement, metabolic involvement, and myopathy coexist. The pleiotropic effect of LMNA variants can result in heterogeneous phenotypes. In this study, we aimed to describe atypical phenotypic characteristics in a patient with familial partial lipodystrophy type 2 associated with LMNA variant, another with mandibuloacral dysplasia, and a third patient with a complex phenotype as well as discuss them in the context of their relationship with the genotype.

中文翻译：

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三名不相关的 LMNA 变异患者的新临床特征和多效作用。

LMNA 基因编码 A 型核纤层蛋白，其编码蛋白与核纤层结构结合，影响核内稳态、DNA 复制、修复、转录和凋亡等过程。LMNA 变异导致一组异质性疾病，称为椎板病。与 LMNA 变异相关的表型主要影响心脏、骨骼、皮肤、骨骼和神经系统。受影响的组织可能因基因上变异的位点和变异类型而异。在某些情况下也可能出现复杂的表型，其中早衰、心肌病、下颌骨发育不良、脂肪营养不良、肾脏受累、代谢受累和肌病并存。LMNA 变体的多效作用可导致异质表型。在这项研究中，