2020•The Journal of Medical InvestigationOpen access
Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities
Kenichi Suga, Issei Imoto, Hiromichi Ito, Takuya Naruto, Aya Goji, Keita Osumi, Narumi Tokaji, Yukako Homma, A. Ono, Yuko Ichihara, Miki Shono, Tatsuo Mori, Maki Urushihara, Ryuji Nakagawa, Yasunobu Hayabuchi, Shoji Kagami
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Abstract
Background : In clinical practice, a large proportion of patients with multiple congenital anomalies and/or intellectual disabilities (MCA / ID) lacks a specific diagnosis. Recently, next-generation sequencing (NGS) has become an efficient strategy for genetic diagnosis of patients with MCA/ID. OBJECTIVE: To review the utility of NGS for the diagnosis of patients with MCA / ID. METHOD: Patients with MCA/ID were recruited between 2013 and 2017. Molecular diagnosis was performed using NGS-based targeted panel sequencing for 4,813 genes. Promising causative variants underwent confirmation by Sanger sequencing or chromosomal microarray. RESULTS: Eighteen patients with MCA/ID were enrolled in this study. Of them, 8 cases (44%) were diagnosed by targeted panel sequencing. Most of diagnosed patients were able to receive better counseling and more appropriate medical management. CONCLUSION: NGS-based targeted panel sequencing seems to be an effective testing strategy for diagnosis of patients with MCA/ID. J. Med. Invest. 67 : 246-249, August, 2020.
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