ABCD1基因具有相同多位点变异的中国家族X连锁肾上腺脑白质营养不良的不同临床表现。

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Psychiatric Genetics Pub Date : 2021-10-01 DOI:10.1097/YPG.0000000000000292

Lin Zhang, Su Li Zhao, Zhi Hong Wang

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引用次数: 1

摘要

目的：本研究总结了该家族X连锁肾上腺脑白质营养不良（X-ALD）患者的临床特征，并报道了一个中国家族中相同变体的两种不同表现。他们进行了一项后续研究，以进一步阐明这种疾病的特征。基本方法：分析临床资料和检测结果，采用Sanger测序法对ALD相关基因ABCD1的外显子区进行测序。主要结果：基因分析表明，先证者ABCD1有三种变异，分别为c.1047C>A、c.1415-1416delAG和c.1548G>A。母亲是三种变体的携带者。在该家族中发现了多位点变异，导致成人发作的儿童大脑ALD和肾上腺脊髓神经病的两种不同表现。主要结论：这些发现进一步增加了我们对ABCD1突变及其相关表型的了解，有利于X-ALD患者的遗传咨询。

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Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.

Objective: 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.

Basic methods: Clinical data and test results were analyzed, and the exon region of ALD-related gene ABCD1 was sequenced by Sanger sequencing.

Main results: 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.

Principal conclusion: 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.

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来源期刊

Psychiatric Genetics 医学-神经科学

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed. Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness. Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered. Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.