Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders.

IF 2.1 4区 医学 Q2 PEDIATRICS Indian Journal of Pediatrics Pub Date : 2025-02-01 Epub Date: 2023-11-09 DOI:10.1007/s12098-023-04916-y
Karthika Ajit Valaparambil, Alfiya Fasaludeen, Lakshmi Priya, Ramshekhar N Menon, Ramesh Menon, Soumya Sundaram
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Abstract

Chromosomal microarray is recommended as the first line of investigation in neurodevelopmental disorders (NDDs). However, advances in next-generation sequencing have unraveled more than 900 genes associated with NDDs, thus improving the genetic diagnosis. Therefore, this study was conducted to explore the utility of clinical exome sequencing (CES) in NDDs from a tertiary care centre in India. A retrospective observational analysis of 78 children with NDDs for whom CES was performed between 2017 and 2021 was conducted. The American College of Medical Genetics and Genomics (ACMG) criteria were used to classify the variants. The mean age was 5.8 ± 3.6 y, and 42 (53%) were male. Pathogenic, likely pathogenic, and variants of uncertain significance (VUS) were observed in 22 (28.2%), 10 (12.8%), and 26 (33.3%) patients, respectively, which included five copy number variants. The diagnostic yield for pathogenic and likely pathogenic variants in NDDs by CES was 41%, which was reasonably high.

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Proband Only临床外显子组测序在神经发育障碍中的临床应用。
染色体微阵列被推荐为神经发育障碍(NDD)的第一条研究线。然而,下一代测序的进展已经揭示了900多个与NDD相关的基因,从而改善了遗传诊断。因此,本研究旨在探索印度一家三级护理中心临床外显子组测序(CES)在NDD中的应用。对2017年至2021年间进行CES的78名NDD儿童进行了回顾性观察性分析。美国医学遗传学和基因组学学院(ACMG)的标准被用于对变异进行分类。平均年龄5.8岁 ± 男性42例(53%)。在22名(28.2%)、10名(12.8%)和26名(33.3%)患者中分别观察到致病性、可能致病性和不确定显著性变异(VUS),其中包括5个拷贝数变异。CES对NDD的致病性和可能致病性变体的诊断率为41%,这是相当高的。
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来源期刊
Indian Journal of Pediatrics
Indian Journal of Pediatrics 医学-小儿科
CiteScore
8.10
自引率
7.00%
发文量
394
审稿时长
3-6 weeks
期刊介绍: Indian Journal of Pediatrics (IJP), is an official publication of the Dr. K.C. Chaudhuri Foundation. The Journal, a peer-reviewed publication, is published twelve times a year on a monthly basis (January, February, March, April, May, June, July, August, September, October, November, December), and publishes clinical and basic research of all aspects of pediatrics, provided they have scientific merit and represent an important advance in knowledge. The Journal publishes original articles, review articles, case reports which provide new information, letters in relation to published articles, scientific research letters and picture of the month, announcements (meetings, courses, job advertisements); summary report of conferences and book reviews.
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