Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and/or intellectual disabilities

被引：0

作者：

Suga, Kenichi ^{[1
]}

Imoto, Issei ^{[2
,3
,4
]}

Ito, Hiromichi ^{[1
,5
]}

Naruto, Takuya ^{[2
]}

Goji, Aya ^{[1
]}

Osumi, Keita ^{[1
]}

Tokaji, Narumi ^{[1
]}

Homme, Yukako ^{[1
]}

Ono, Akemi ^{[1
]}

Ichihara, Yuko ^{[1
]}

Shono, Miki ^{[1
]}

Mori, Tatsuo ^{[1
]}

Urushihara, Maki ^{[1
]}

Nakagawa, Ryuji ^{[1
]}

Hayabuchi, Yasunobu ^{[1
]}

Kagami, Shoji ^{[1
]}

机构：

[1] Tokushima Univ Hosp, Dept Pediat, 2-50-1 Kuramotocho, Tokushima, Tokushima 7708503, Japan

[2] Tokushima Univ, Grad Sch Biomed Sci, Dept Human Genet, Grad Sch, Tokushima, Japan

[3] Aichi Canc Ctr, Div Mol Genet, Res Inst, Nagoya, Aichi, Japan

[4] Nagoya Univ, Dept Canc Genet, Grad Sch Med, Nagoya, Aichi, Japan

[5] Naruto Univ Educ, Grad Sch Educ, Dept Special Needs Educ, Naruto, Japan

来源：

JOURNAL OF MEDICAL INVESTIGATION | 2020年 / 67卷 / 3-4期

关键词：

next-generation sequencing; targeted panel sequencing; multiple congenital anomalies; intellectual disability;

D O I：

暂无

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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

引用

页码：246 / 249

页数：4

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