A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy

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• 作者：Xiaoxiao Guo ; MD^a ; ^&lowast ; ; Chao Ling ; MD^b ; ^&lowast ; ; Yongtai Liu ; MD^a ; Xue Zhang ; PhD^b ; Shuyang Zhang ; MD^a ; ^{zhshypumch@163.com" class="auth_mail" title="E-mail the corresponding author}
• 刊名：Canadian Journal of Cardiology
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：32
• 期：9
• 页码：1166.e29-1166.e31
• 全文大小：804 K

文摘

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.