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精细化与CCDC88A相关的PEHO类综合征的表型谱

Mahmoud Y Issa¹, Mona A Hafez², Samir M Mounir³

¹Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

American journal of medical genetics. Part A

|October 6, 2023

概括

带有,低心律和视力缩的渐进性脑病变 (PEHO) 是一种罕见的婴儿疾病. 这项研究在一个埃及家庭中发现了一种新的CCDC88A基因变异,扩大了PEHO类综合征的已知遗传原因.

科学领域:

遗传学遗传学是一个
神经学神经学
罕见疾病罕见疾病

背景情况:

有着,低心律,视力缩 (PEHO) 和PEHO类综合征的渐进性脑病是罕见的婴儿疾病.
CCDC88A是PEHO和PEHO类综合征的已知致病基因,以前只有五名患者报告.
这些综合征的特点是严重的智力障碍,低血压,发作,视力缩和渐进性脑缩.

研究的目的:

报告一个新的家庭患有由CCDC88A变种引起的致命性脑病变.
进一步划分与CCDC88A.中双性功能丧失变异相关的表型谱.
为了解罕见的婴儿神经发育障碍的遗传基础作出贡献.

主要方法:

对新患者进行临床评估,该患者出现了小头症,视觉反应不佳和.
大脑MRI用于评估神经解剖学异常.
整体外基因组测序以识别遗传变异.
对之前报告的CCDC88A相关病例的文献综述.

主要成果:

一个新的埃及家庭被发现患有致命的性脑病.
这位患者出现了小头症,视力障碍,和严重的脑部异常,包括皮质旋转异常和白质量减少.
整个外基因组测序揭示了CCDC88A基因中的一种新型同卵性框架转移变异 (c.1795_1798delACAA, p.Thr599ValfsTer4).
这代表了第三个报告的家庭与CCDC88A相关的PEHO类疾病.

结论:

这项研究描述了一种新型的同卵性CCDC88A变体在一个血缘关系的埃及家庭中,呈现出严重的脑病变.
这些发现扩大了CCDC88A相关疾病的范围,并突出了它在婴儿神经发育中的作用.
需要进一步的研究才能充分了解CCDC88A变种的致病性和临床影响.

关键词:

这就是CCDC88A基因.像PEHO这样的综合症.大脑发育不良大脑发育不良微头症是一个微头症.整体外基因组测序的测序

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