Department of Laboratory Medicine, The First People's Hospital of Yichang/The People's Hospital of China Three Gorges University, Yichang.
Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College/Fuzong Clinical College of Fujian Medical University, Fuzhou, Fujian, China.
Psychiatr Genet. 2021 Oct 1;31(5):162-167. doi: 10.1097/YPG.0000000000000292.
This study summarized the clinical characteristics of X-linked adrenoleukodystrophy (X-ALD) patients in this family, and two different manifestations of the same variants in a Chinese family were reported in this article. That conducted a follow-up study to further clarify the characteristics of this disease.
Clinical data and test results were analyzed, and the exon region of ALD-related gene ABCD1 was sequenced by Sanger sequencing.
Gene analysis showed that there were three ABCD1 variants in the proband, c.1047C>A, c.1415-1416delAG and c.1548G>A. The elder brother of the proband had the same three variants as the proband, but showed different clinical symptoms. The mother was the carrier of three variants. Multisite variants were uncovered in this family, which caused two different manifestations of adult-onset childhood cerebral ALD and adrenomyeloneuropathy.
These findings further increase our knowledge about ABCD1 mutations and the associated phenotypes, which is beneficial for the genetic counseling of patients with X-ALD.
总结该家系 X 连锁肾上腺脑白质营养不良（X-ALD）患者的临床特征，并报道该家系中同一变异的两种不同表现形式。对其进行随访研究，以进一步阐明该疾病的特征。
分析临床资料和检测结果，并对 ALD 相关基因 ABCD1 的外显子区域进行 Sanger 测序。
基因分析显示，先证者存在三个 ABCD1 变异，c.1047C>A、c.1415-1416delAG 和 c.1548G>A。先证者的哥哥与先证者具有相同的三个变异，但表现出不同的临床症状。母亲是三个变异的携带者。该家系存在多部位变异，导致成年起病的儿童脑型 ALD 和肾上腺脑白质神经病的两种不同表现形式。
这些发现进一步增加了我们对 ABCD1 突变及其相关表型的认识，有助于 X-ALD 患者的遗传咨询。
