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通过先进的遗传检测揭示了X链接的阿尔波特综合征中的母体生殖系马赛克主义

Yuting Shen^1,2, Caihong Liu², Wei Wei²

¹Department of Nephrology, Chengdu Seventh People's Hospital (Affiliated Cancer Hospital of Chengdu Medical College), Chengdu, Sichuan, China.

The American journal of case reports

|August 6, 2025

概括

孕产妇的生殖系马赛克主义可以导致X链接的阿尔波特综合征 (XLAS) 在后代中,即使有负面的孕产妇遗传检测. 这一案例凸显了需要更好的检测方法来检测XLAS家族中的生殖线马赛克.

科学领域:

遗传学遗传学是一种遗传学.
腎臟病學 (nephrology) 是一種醫學.
分子生物学分子生物学

背景情况:

与X相关的阿尔波特综合征 (XLAS) 是一种遗传性病,由COL4A5基因突变引起,影响底层膜完整性.
突变导致原IV缺陷,导致脏,眼睛和耳朵的功能障碍.
母亲生殖系马赛克主义,即母亲在生殖细胞中携带突变,但不是体细胞,可以导致意外的XLAS遗传.

研究的目的:

报告一家患有X链接阿尔波特综合征的家庭中母亲生殖系马赛克主义病例.
强调在这种情况下对遗传咨询的诊断挑战和影响.

主要方法:

对一个X链接阿尔波特综合征家族的临床评估.
对受试者,他的妹妹和母亲进行基因检测.
对 COL4A5 基因变异的分析.

主要成果:

一名16岁的男性试验者和他的妹妹携带了一种致病性COL4A5变体 (NM_000495.5:exon 39:c. G3508A:p. G1170S).
母亲对体细胞变异的检测结果呈阴性,表明无症状的生殖系马赛克主义.
这位姐姐出现了微观的血.

结论:

母亲生殖系马赛克主义是一种罕见但重要的X链接阿尔波特综合征的原因.
目前的基因测试可能会错过生殖线的马赛克,使复发风险评估复杂化.
开发敏感的,特定的,和微创的诊断工具为生殖线马赛克主义是至关重要的.

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相关概念视频

X-Inactivation

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...