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双切割DNAH14变异在神经发育障碍和主导性无氧症的兄弟姐妹中:临床报告和文献综述

Savas Baris¹, Mustafa Dogan², Kerem Terali³

¹Department of Medical Genetics, Aydın Maternity and Children's Hospital, Aydin 09020, Turkey.

International journal of molecular sciences

|January 28, 2026

概括

两位患有缩和认知问题的兄弟姐妹被发现患有弗里德里希缩 (FRDA) 和一种新的DNAH14基因变异. 这种双重遗传原因扩大了对复杂神经发育障碍的理解.

科学领域:

遗传学是一个遗传学.
神经科学是一个神经科学.
分子生物学分子生物学

背景情况:

神经发育障碍 (NDDs) 伴随着心动衰竭存在由于遗传异质性而导致的诊断挑战.
基因组技术越来越多地识别了传统上与NDDs无关的基因中的新型致病变体.
参与纤毛细胞运动的DNAH14是神经综合征的最新候选基因.

研究的目的:

为了研究两个兄弟姐妹晚期发病的缺氧和认知障碍的遗传基础.
识别与复杂的神经发育表型相关的基因中的新型致病变异.
探索潜在的双重遗传对重叠的神经症状的贡献.

主要方法:

进行全外体测序 (WES) 来识别致病变异.
遗传分析包括对已知的致病性重复扩张进行查.
使用in silico算法和家族分离分析来评估变异的致病性和遗传性.

主要成果:

两个兄弟姐妹都出现了晚期发病的动力衰竭,平衡障碍和认知障碍.
他们发现,他们既具有致病性*FXN*GAA重复扩张 (弗里德里希的缺氧) 和一种新型的同卵性框架转移*DNAH14*变体.
预计 *DNAH14* 变体是有害的,并与自身遗传的自体逆向遗传分离.

结论:

弗里德里希的缺氧和一个同卵性*DNAH14*变体的同时发生表明,观察到的复杂表型具有双重遗传病因.
*DNAH14* 干扰可能会导致神经发育特征超出FRDA中看到的典型的缺氧.
这项研究扩大了已知的DNAH14*相关疾病的表型谱,并强调了在非典型的病例中需要考虑多部位变异的必要性.

关键词:

DNAH14 DNAH14 的意思过敏性过敏症 (ataxia) 是一种导致过敏性过敏的疾病.生物信息学是一种生物信息学.遗传病是一种遗传性疾病.神经发育的神经发育变种变种变种变种变种

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