遗传 ›› 2022, Vol. 44 ›› Issue (10): 913-925.doi: 10.16288/j.yczz.22-225
收稿日期:
2022-06-30
修回日期:
2022-09-06
出版日期:
2022-10-20
发布日期:
2022-09-20
通讯作者:
于淼
E-mail:jz_xiaocheng@163.com;yumiaoxh@163.com
作者简介:
肖诚,在读博士研究生,专业方向:内分泌与代谢病方向。E-mail: 基金资助:
Cheng Xiao1(), Jieying Liu1,2, Chunru Yang1, Miao Yu1(
)
Received:
2022-06-30
Revised:
2022-09-06
Online:
2022-10-20
Published:
2022-09-20
Contact:
Yu Miao
E-mail:jz_xiaocheng@163.com;yumiaoxh@163.com
Supported by:
摘要:
LMNA基因突变相关脂肪萎缩综合征(lipodystrophy syndrome)是一组由A型核纤层蛋白(lamin A/C, LMNA)基因突变引起的常染色体显性遗传单基因疾病,以选择性脂肪缺失伴胰岛素抵抗等代谢异常为特征。本文总结了目前已报道的可引起脂肪萎缩综合征的LMNA突变位点,及该突变位点导致的代谢并发症、心血管异常、性腺轴紊乱、肌病、肾脏异常等多种临床表现,阐述了LMNA基因致病性突变位点可能的致病机制及诊疗方法,以期为该疾病的基础研究和临床诊治提供参考。
肖诚, 刘洁颖, 杨春如, 于淼. LMNA基因突变相关脂肪萎缩综合征的研究进展[J]. 遗传, 2022, 44(10): 913-925.
Cheng Xiao, Jieying Liu, Chunru Yang, Miao Yu. Advances in lipodystrophy syndrome caused by LMNA gene mutation[J]. Hereditas(Beijing), 2022, 44(10): 913-925.
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