[Clinical features and genetic diagnosis of four cases with progeria syndrome]

Zhonghua Er Ke Za Zhi. 2019 Aug 2;57(8):636-638. doi: 10.3760/cma.j.issn.0578-1310.2019.08.013.

[Article in Chinese]

Authors

L Y Zhu¹, H Liu², D M Li², F J Li², X Qin³, W Y Li¹, T Guo¹, S J Wen¹, L Fang², W Shu², Y K Lin¹

Affiliations

¹ Department of Dermatology, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
² Department of Cell Biology and Genetics, Guangxi Medical University, Nanning 530021, China.
³ Department of Dermatology, Second Hospital of Nanning, Nanning 530031, China.

PMID: 31352751
DOI: 10.3760/cma.j.issn.0578-1310.2019.08.013

Abstract

4例患儿均因皮肤异常入院，临床表现为早衰面容、身材矮小、皮下脂肪萎缩、秃发、智力正常，临床诊断为儿童早老症。基因检测4例患儿中存在2种基因变异，分别为LMNA基因c.1579C>T(p.R527C）纯合变异和c.1824 C>T(p.G608G）显性变异，确诊为2种不同变异类型儿童早老症。.

Publication types

Case Reports

MeSH terms

Humans
Lamin Type A / genetics*
Phenotype
Progeria / diagnosis
Progeria / genetics*

Substances

Lamin Type A