A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy.
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.
Department of Cardiology, Peking Union Medical College Hospital, Beijing, China.
Xiaoxiao
X
Guo
Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Beijing, China.
Chao
C
Ling
Department of Cardiology, Peking Union Medical College Hospital, Beijing, China.
Yongtai
Y
Liu
Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Beijing, China.
Xue
X
Zhang
Department of Cardiology, Peking Union Medical College Hospital, Beijing, China. Electronic address: zhshypumch@163.com.
Shuyang
S
Zhang
D044466:Asian People / Q000235:genetics; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002681:China; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008060:Lipodystrophy / Q000235:genetics; D009154:Mutation; D011371:Progeria / Q000235:genetics*; D055815:Young Adult
C494847:LMNA protein, human; D034904:Lamin Type A