[A pedigree of X-linked adrenoleukodystrophy with hypocorticism]

M Nan; Y F Liu; X Zhao; N Yuan; S B Chai; X M Zhang

doi:10.3760/cma.j.cn112138-20200417-00384

[A pedigree of X-linked adrenoleukodystrophy with hypocorticism]

Zhonghua Nei Ke Za Zhi. 2021 Feb 1;60(2):152-155. doi: 10.3760/cma.j.cn112138-20200417-00384.

[Article in Chinese]

Authors

M Nan¹, Y F Liu¹, X Zhao¹, N Yuan¹, S B Chai¹, X M Zhang¹

Affiliation

¹ Department of Endocrinology, Peking University International Hospital, Beijing 102200, China.

PMID: 33503729
DOI: 10.3760/cma.j.cn112138-20200417-00384

Abstract

报道1个以肾上腺皮质功能减退起病的X连锁肾上腺脑白质营养不良（X-ALD）家系。家系中3例患者均以肾上腺皮质功能减退起病，经基因检测发现位于X染色体的ABCD1基因（转录版本Exon编号：NM_000033.3 exon6）存在c.1552C>T chrX-153005609 (p.R518W）变异, 该突变为致病突变。该家系报道的突变位点为国内第3次报道，为深入认识X-ALD提供信息。.

MeSH terms

Adrenoleukodystrophy* / genetics
Humans
Pedigree
Polymerase Chain Reaction