Department of Cardiology, Peking Union Medical College Hospital, Beijing, China.
Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Beijing, China.
Can J Cardiol. 2016 Sep;32(9):1166.e29-31. doi: 10.1016/j.cjca.2015.11.011. Epub 2015 Nov 19.
Mutations in the gene LMNA cause a wide spectrum of diseases that selectively affect different tissues and organ systems. The clinical features of these disorders can overlap but be generally categorized into 2 groups: cardiomyopathy and neuromuscular disorders; premature aging and lipodystrophy disorders. It is significant for a single patient who harbours the 2 sets of diseases simultaneously. We present a female patient with a unique phenotype including rare atypical progeroid syndrome and dilated cardiomyopathy. Genetic mutation detection in the gene LMNA revealed a novel heterozygous de novo mutation p.Leu59Val located in the first exon of gene LMNA c.175C>CG.
基因 LMNA 的突变导致广泛的疾病谱，这些疾病选择性地影响不同的组织和器官系统。这些疾病的临床特征可能重叠，但通常可分为 2 组：心肌病和神经肌肉疾病；早老症和脂肪营养不良症。对于同时患有这两组疾病的单个患者来说，这一点非常重要。我们介绍了一位女性患者，其具有独特的表型，包括罕见的非典型早老症综合征和扩张型心肌病。基因 LMNA 中的基因突变检测显示一种新的杂合性从头突变 p.Leu59Val，位于基因 LMNA 的第一个外显子 c.175C>CG 处。
