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性的分子诊断中的意想不到的复杂性 11

Irene Mademont-Soler^1,2, Susanna Esteba-Castillo^2,3, Aida Jiménez-Xifra⁴

¹Àrea de Genètica Clínica i Consell Genètic, Laboratori Clínic Territorial Girona, Institut Català de la Salut, Girona, Spain.

Molecular genetics & genomic medicine

|June 28, 2024

概括

性 11 (SPG11) 是由SPG11基因变异引起的. 在一个病人身上发现了一种新型变异,导致表细胞跳转和基因上游的删除,这表明了新的疾病机制.

科学领域:

遗传学遗传学是一个
神经学神经学
分子生物学分子生物学

背景情况:

性 11 (SPG11) 是最常见的自体逆性遗传性性.
它是由SPG11基因中的双性致病变体引起的.

研究的目的:

在患有认知功能障碍和步行障碍的患者中调查SPG11的遗传原因.
确定SPG11中的新型致病变体和机制.

主要方法:

对比基因组杂交 (CGH) 阵列分析.
下一代测序 (NGS) 的SPG11基因.
整个转录基因组的测序.

主要成果:

在SPG11上游检测到180kb的删除.
确定了两种SPG11变异:一个新型的exon 17中的c.3143C>T变异,以及之前报告的exon 34中的c.6409C>T变异.
这种新型变异导致17号外显子跳转,而删除可能会影响cis-regulatory元素.

结论:

一个新型的SPG11变体导致外子跳跃,结合一个无意义的变体,在试验中是SPG11的基础.
上游删除表明SPG11的潜在新致病机制.
这些发现支持SPG11患者中薄体质体的渐进性质.

关键词:

在SPG11中,SPG11就是SPG11.这些是cis-regulatory元素.基因诊断基因诊断是一种基因诊断.性截肢症 11 性截肢症 11 整个转录基因组的测序.

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