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

TITLE=Analysis of trio test in neurodevelopmental disorders

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.1073083

DOI=10.3389/fped.2022.1073083

ISSN=2296-2360

ABSTRACT=<sec><title>Background</title><p>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).</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p>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 <italic>de novo</italic> variants detected, 149 were pathogenic and we detected 85 novel pathogenic variants. Pathogenic, <italic>de novo</italic> variants were frequently detected in <italic>CDKL5</italic>, <italic>ATP1A3</italic>, and <italic>STXBP1</italic>.</p></sec><sec><title>Conclusion</title><p>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.</p></sec>