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"没有发现致病变体":PAX2相关疾病的异常表现,在快速全外基因组测序测试中没有检测到

Patricia A Wells¹, Anna P Basu^2,3, Laura M Yates^1,4

¹Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

BMJ case reports

|January 22, 2025

概括

这项研究报告了一种罕见的Paired box 2 (PAX2) 相关疾病病例,该病例呈现出急性. 全基因组测序发现了一种新的PAX2微删除,扩大了这种遗传疾病的已知表型.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
腎臟病學 (nephrology) 是一種醫學專業.

背景情况:

配对盒2 (PAX2) 相关疾病,或结肠瘤综合征,是一种自体主导性疾病.
它的特点是可变的透率和相关的脏和眼科异常.

研究的目的:

报告PAX2相关疾病的非典型表现在患有急性性衰竭和慢性病的儿童中.
突出诊断挑战和全基因组测序在识别遗传变异中的实用性.

主要方法:

一个患有非典型症状的儿童的病例报告.
最初的诊断工作包括生物化学和放射学评估,以及基因无关的快速三元外体序列测序.
由于持续的诊断不确定性,进行了全基因组三重测序.

主要成果:

试验对象和他的父亲出现了双边光盘结肠瘤,这表明一种遗传性疾病.
最初的外基因组测序没有诊断效果.
整个基因组三组测序发现一个遗传的PAX2微删除,包括4号外因子,揭示了不完整的透.

结论:

这一案例扩大了已知的PAX2相关疾病的表型谱,包括急性.
它强调了将临床遗传学与主流医疗实践相结合的重要性,以准确诊断.
整个基因组测序对于识别复杂的遗传变异,如微切除,特别是在异型呈现或不完全透的情况下至关重要.

关键词:

遗传学遗传学是一个神经遗传学神经遗传学眼科医生眼科眼科儿科儿科儿科腎臟醫學腎臟醫學

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