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在神经发育障碍中,Proband Only临床外测序的临床实用性

Karthika Ajit Valaparambil¹, Alfiya Fasaludeen¹, Lakshmi Priya¹

¹Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, 695011, Kerala, India.

Indian journal of pediatrics

|November 9, 2023

概括

临床外体序列测序 (CES) 为神经发育障碍 (NDD) 提供了高的诊断产量. 这项研究发现,CES有助于确定印度儿童患有NDD的遗传原因.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
分子生物学分子生物学

背景情况:

染色体微阵列是神经发育障碍 (NDD) 调查的标准.
下一代测序已经确定了900多个与NDD相关的基因,提高了诊断能力.

研究的目的:

评估临床外体序列测序 (CES) 在印度诊断NDD的有效性.
为了确定儿科队列中CES的诊断产量.

主要方法:

78名患有NDD的儿童接受CES (2017-2021) 的回顾性分析.
使用美国医学遗传学和基因组学学院 (ACMG) 标准的变异分类.
分析包括致病性,可能致病性和意义不明的变体 (VUS).

主要成果:

在41%的患者中,CES发现了致病或可能致病的变体.
在33.3%的病例中发现了不确定的意义的变异 (VUS).
在确定的基因变异中,有五种拷贝数变异.

结论:

临床外基因组测序表明,在印度人群中,NDD的诊断产量显著.
在患有神经发育障碍的儿童中,CES是一种宝贵的基因诊断工具.
进一步的研究可以完善变体解释,并扩大NDDs的遗传基础.

关键词:

自闭症谱系障碍自闭症谱系障碍临床外基因组测序临床外基因组测序诊断的收益率是一个问题.智力障碍智力障碍是一种智力障碍.神经发育障碍神经发育障碍下一代测序测序是什么

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