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ORIGINAL RESEARCH article

Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 12 - 2024 | doi: 10.3389/fped.2024.1448895
This article is part of the Research Topic The Etiology and Pathogenesis of Craniomaxillofacial Birth Defects View all 7 articles

The Application of Whole-Exome Sequencing in the Early Diagnosis of Rare Genetic Diseases in Children: A Study from Southeastern China

Provisionally accepted
Guihua Lai Guihua Lai Qiying Gu Qiying Gu Zhiyong Lai Zhiyong Lai Haijun Chen Haijun Chen Junkun Chen Junkun Chen Jungao Huang Jungao Huang *
  • Ganzhou Maternal and Child Health Hospital, Ganzhou, China

The final, formatted version of the article will be published soon.

    Background: Genetic diseases exhibit significant clinical and genetic diversity, leading to a complex and challenging diagnostic process. Exploiting novel approaches is imperative for the molecular diagnosis of genetic diseases. In this study, we utilized whole-exome sequencing (WES) to facilitate early diagnosis in patients suspected of genetic disorders.Methods: This retrospective analysis included 144 patients diagnosed by singleton-WES Trio-WES between January 2021 and December 2023. We investigated the relevance of diagnosis rates with age, clinical presentation, and sample type.Results: Among the 144 patients, 61 were diagnosed, yielding an overall diagnostic rate of 42.36%, with Trio-WES demonstrating a significantly higher diagnostic rate of 51.43% (36/70) compared to singleton-WES at 33.78% (25/74) (p < 0.05). Global developmental delay had a diagnosis rate of 67.39%, significantly higher than muscular hypotonia at 30.43% (p < 0.01) among different clinical phenotypic groups.Autosomal dominant disorders accounted for 70.49% (43/61) of positive cases, with autosomal abnormalities being fivefold more prevalent than sex chromosome abnormalities. Notably, sex chromosome abnormalities were more prevalent in males (80%, 8/10). Furthermore, 80.56% (29/36) of pathogenic variants were identified as de novo mutations through Trio-WES.Conclusions: These findings highlight the effectiveness of WES in identifying genetic variants, and elucidating the molecular basis of genetic diseases, ultimately enabling early diagnosis in affected children.

    Keywords: Whole-exome sequencing, Genetic diseases, genetic diagnosis, Children, rare disease

    Received: 14 Jun 2024; Accepted: 23 Sep 2024.

    Copyright: © 2024 Lai, Gu, Lai, Chen, Chen and Huang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Jungao Huang, Ganzhou Maternal and Child Health Hospital, Ganzhou, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.