与局灶性肾小球硬化症有关的 PAX2 基因框变突变：病例报告和文献综述

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Molecular Genetics & Genomic Medicine Pub Date : 2024-09-01 DOI:10.1002/mgg3.70006

Xueling Hu, Wei Lin, Zengyuan Luo, Yong Zhong, Xiangcheng Xiao, Rong Tang

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引用次数: 0

摘要

背景：配对盒基因2（PAX2）杂合子突变可导致肾脏巨瘤综合征，但其在局灶节段性肾小球硬化症（FSGS）患者中的作用却鲜有报道：方法：根据患者的临床表现和肾脏病理特征，以及家族性全外显子组测序，确诊为与PAX2突变相关的FSGS。给予降尿蛋白、降血压等治疗，并对患者进行随访观察：结果：这是一例家族性杂合子病例，继发于 FSGS 的慢性肾病，与 PAX2 第 76 位 G 缺失（c.76delG）导致的框移突变有关。据我们所知，这是首次报道 PAX2 c.76delG 变异与成人发病型 FSGS 有关：在此，我们进一步扩展了 FSGS 的表型谱。建议对病因不明的成人型 FSGS 患者进行基因筛查，尤其是 PAX2 基因突变。

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Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.

Background: Paired box gene 2 (PAX2) heterozygous mutations can cause renal coloboma syndrome, but its role in patients with focal segmental glomerular sclerosis (FSGS) has been rarely reported.

Methods: Based on the clinical manifestations and renal pathological characteristics of the patient, as well as familial whole exome sequencing, the diagnosis of FSGS related to PAX2 mutation was confirmed. Treatment such as lowering urinary protein and blood pressure was given, and the patient was followed up and observed.

Results: There is a familial heterozygous case presented with chronic kidney disease secondary to FSGS, which was related to PAX2 frameshift mutation due to the deletion of G at the position 76 (c.76delG). To our knowledge, this is the first report of PAX2 c.76delG variant related to adult-onset FSGS.

Conclusion: Here, we further expand the phenotypic spectrum of FSGS. Genetic screening especially PAX2 mutation is recommended in patients with adult-onset FSGS of unknown etiology.

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.