Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

被引：63

作者：

Muramatsu, Hideki ^{[1
]}

Okuno, Yusuke ^{[1
]}

Yoshida, Kenichi ^{[2
]}

Shiraishi, Yuichi ^{[3
]}

Doisaki, Sayoko ^{[1
]}

Narita, Atsushi ^{[1
]}

Sakaguchi, Hirotoshi ^{[1
]}

Kawashima, Nozomu ^{[1
]}

Wang, Xinan ^{[1
]}

Xu, Yinyan ^{[1
]}

Chiba, Kenichi ^{[3
]}

Tanaka, Hiroko ^{[3
]}

Hama, Asahito ^{[1
]}

Sanada, Masashi ^{[2
,4
]}

Takahashi, Yoshiyuki ^{[1
]}

Kanno, Hitoshi ^{[5
]}

Yamaguchi, Hiroki ^{[6
]}

Ohga, Shouichi ^{[7
]}

Manabe, Atsushi ^{[8
]}

Harigae, Hideo ^{[9
]}

Kunishima, Shinji ^{[4
]}

Ishii, Eiichi ^{[10
]}

Kobayashi, Masao ^{[11
]}

Koike, Kenichi ^{[12
]}

Watanabe, Kenichiro ^{[13
]}

Ito, Etsuro ^{[14
]}

Takata, Minoru ^{[15
]}

Yabe, Miharu ^{[16
]}

Ogawa, Seishi ^{[2
]}

Miyano, Satoru ^{[3
,17
]}

Kojima, Seiji ^{[1
]}

机构：

[1] Nagoya Univ, Grad Sch Med, Dept Pediat, Nagoya, Aichi, Japan

[2] Kyoto Univ, Grad Sch Med, Dept Pathol & Tumor Biol, Kyoto, Japan

[3] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab DNA Informat Anal, Tokyo, Japan

[4] Natl Hosp Org Nagoya Med Ctr, Clin Res Ctr, Dept Adv Diag, Nagoya, Aichi, Japan

[5] Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan

[6] Nippon Med Sch, Dept Hematol, Tokyo, Japan

[7] Yamaguchi Univ, Grad Sch Med, Dept Pediat, Ube, Yamaguchi, Japan

[8] St Lukes Int Hosp, Dept Pediat, Tokyo, Japan

[9] Tohoku Univ, Grad Sch, Dept Hematol & Rheumatol, Sendai, Miyagi, Japan

[10] Ehime Univ, Grad Sch Med, Dept Pediat, Matsuyama, Ehime, Japan

[11] Hiroshima Univ Hosp, Dept Pediat, Hiroshima, Japan

[12] Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano, Japan

[13] Shizuoka Childrens Hosp, Dept Hematol Oncol, Shizuoka, Japan

[14] Hirosaki Univ, Grad Sch Med, Dept Pediat, Hirosaki, Aomori, Japan

[15] Kyoto Univ, Ctr Radiat Biol, Dept Late Effects Studies, Lab DNA Damage Signaling, Kyoto, Japan

[16] Tokai Univ Hosp, Dept Cell Transplantat & Regenerat Med, Isehara, Kanagawa, Japan

[17] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab Sequence Anal, Tokyo, Japan

来源：

GENETICS IN MEDICINE | 2017年 / 19卷 / 07期

关键词：

Fanconi anemia; inherited bone marrow failure; next-generation sequencing; target sequencing; whole-exome sequencing; MUTATIONS; ANEMIA;

D O I：

10.1038/gim.2016.197

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. Methods: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). Results: We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES. In the majority of cases (targeted sequencing: 45/53, 85%; WES: 63/68, 93%), the detected variants were concordant with, and therefore supported, the clinical diagnoses. However, in the remaining 13 cases (8 patients by target sequencing and 5 patients by WES), the clinical diagnoses were incompatible with the detected variants. Conclusion: Our approach utilizing targeted sequencing and WES achieved satisfactory diagnostic rates and supported the efficacy of massive parallel sequencing as a diagnostic tool for IBMFS.

引用

页码：796 / 802

页数：7

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