Analysis of trio test in neurodevelopmental disorders

Se Hee Kim, Soon Sung Kwon, Joon Soo Lee, Heung Dong Kim, Seung Tae Lee, Jong Rak Choi, Saeam Shin, Hoon Chul Kang

Research output: Contribution to journalArticlepeer-review


Background: Trio test has been widely used for diagnosis of various hereditary disorders. We aimed to investigate the contribution of trio test in genetically diagnosing neurodevelopmental disorders (NDD). Methods: We retrospectively reviewed 2,059 NDD cases with genetic test results. The trio test was conducted in 563 cases. Clinical usefulness, optimal timing, and methods for the trio test were reviewed. Results: Pathogenic or likely pathogenic variants were detected in 112 of 563 (19.9%) patients who underwent the trio test. With trio test results, the overall diagnostic yield increased by 5.4% (112/2,059). Of 165 de novo variants detected, 149 were pathogenic and we detected 85 novel pathogenic variants. Pathogenic, de novo variants were frequently detected in CDKL5, ATP1A3, and STXBP1. Conclusion: The trio test is an efficient method for genetically diagnosing NDD. We identified specific situations where a certain trio test is more appropriate, thereby providing a guide for clinicians when confronted with variants of unknown significance of specific genes.

Original languageEnglish
Article number1073083
JournalFrontiers in Pediatrics
Publication statusPublished - 2022 Dec 23

Bibliographical note

Funding Information:
This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (NRF-2022R1A2C1012522), a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health and Welfare, Republic of Korea (grant number: HI21C1659) and the Team Science Award of Yonsei University College of Medicine (6-2021-0007).

Publisher Copyright:
2022 Kim, Kwon, Lee, Kim, Lee, Choi, Shin and Kang.

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


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