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

Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Sayoko Doisaki, Atsushi Narita, Hirotoshi Sakaguchi, Nozomu Kawashima, Xinan Wang, Yinyan Xu, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Masashi Sanada, Yoshiyuki Takahashi, Hitoshi Kanno, Hiroki Yamaguchi, Shouichi Ohga, Atsushi Manabe, Hideo HarigaeShinji Kunishima, Eiichi Ishii, Masao Kobayashi, Kenichi Koike, Kenichiro Watanabe, Etsuro Ito, Minoru Takata, Miharu Yabe, Seishi Ogawa, Satoru Miyano, Seiji Kojima

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

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.Genet Med advance online publication 19 January 2017.

Original languageEnglish
Pages (from-to)796-802
Number of pages7
JournalGenetics in Medicine
Volume19
Issue number7
DOIs
Publication statusPublished - Jul 1 2017

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Viverridae
Inborn Genetic Diseases
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Bone Marrow failure syndromes
Genes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Muramatsu, H., Okuno, Y., Yoshida, K., Shiraishi, Y., Doisaki, S., Narita, A., ... Kojima, S. (2017). Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Genetics in Medicine, 19(7), 796-802. https://doi.org/10.1038/gim.2016.197

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. / Muramatsu, Hideki; Okuno, Yusuke; Yoshida, Kenichi; Shiraishi, Yuichi; Doisaki, Sayoko; Narita, Atsushi; Sakaguchi, Hirotoshi; Kawashima, Nozomu; Wang, Xinan; Xu, Yinyan; Chiba, Kenichi; Tanaka, Hiroko; Hama, Asahito; Sanada, Masashi; Takahashi, Yoshiyuki; Kanno, Hitoshi; Yamaguchi, Hiroki; Ohga, Shouichi; Manabe, Atsushi; Harigae, Hideo; Kunishima, Shinji; Ishii, Eiichi; Kobayashi, Masao; Koike, Kenichi; Watanabe, Kenichiro; Ito, Etsuro; Takata, Minoru; Yabe, Miharu; Ogawa, Seishi; Miyano, Satoru; Kojima, Seiji.

In: Genetics in Medicine, Vol. 19, No. 7, 01.07.2017, p. 796-802.

Research output: Contribution to journalArticle

Muramatsu, H, Okuno, Y, Yoshida, K, Shiraishi, Y, Doisaki, S, Narita, A, Sakaguchi, H, Kawashima, N, Wang, X, Xu, Y, Chiba, K, Tanaka, H, Hama, A, Sanada, M, Takahashi, Y, Kanno, H, Yamaguchi, H, Ohga, S, Manabe, A, Harigae, H, Kunishima, S, Ishii, E, Kobayashi, M, Koike, K, Watanabe, K, Ito, E, Takata, M, Yabe, M, Ogawa, S, Miyano, S & Kojima, S 2017, 'Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes', Genetics in Medicine, vol. 19, no. 7, pp. 796-802. https://doi.org/10.1038/gim.2016.197
Muramatsu H, Okuno Y, Yoshida K, Shiraishi Y, Doisaki S, Narita A et al. Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Genetics in Medicine. 2017 Jul 1;19(7):796-802. https://doi.org/10.1038/gim.2016.197
Muramatsu, Hideki ; Okuno, Yusuke ; Yoshida, Kenichi ; Shiraishi, Yuichi ; Doisaki, Sayoko ; Narita, Atsushi ; Sakaguchi, Hirotoshi ; Kawashima, Nozomu ; Wang, Xinan ; Xu, Yinyan ; Chiba, Kenichi ; Tanaka, Hiroko ; Hama, Asahito ; Sanada, Masashi ; Takahashi, Yoshiyuki ; Kanno, Hitoshi ; Yamaguchi, Hiroki ; Ohga, Shouichi ; Manabe, Atsushi ; Harigae, Hideo ; Kunishima, Shinji ; Ishii, Eiichi ; Kobayashi, Masao ; Koike, Kenichi ; Watanabe, Kenichiro ; Ito, Etsuro ; Takata, Minoru ; Yabe, Miharu ; Ogawa, Seishi ; Miyano, Satoru ; Kojima, Seiji. / Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. In: Genetics in Medicine. 2017 ; Vol. 19, No. 7. pp. 796-802.
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AU - Yoshida, Kenichi

AU - Shiraishi, Yuichi

AU - Doisaki, Sayoko

AU - Narita, Atsushi

AU - Sakaguchi, Hirotoshi

AU - Kawashima, Nozomu

AU - Wang, Xinan

AU - Xu, Yinyan

AU - Chiba, Kenichi

AU - Tanaka, Hiroko

AU - Hama, Asahito

AU - Sanada, Masashi

AU - Takahashi, Yoshiyuki

AU - Kanno, Hitoshi

AU - Yamaguchi, Hiroki

AU - Ohga, Shouichi

AU - Manabe, Atsushi

AU - Harigae, Hideo

AU - Kunishima, Shinji

AU - Ishii, Eiichi

AU - Kobayashi, Masao

AU - Koike, Kenichi

AU - Watanabe, Kenichiro

AU - Ito, Etsuro

AU - Takata, Minoru

AU - Yabe, Miharu

AU - Ogawa, Seishi

AU - Miyano, Satoru

AU - Kojima, Seiji

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N2 - 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.Genet Med advance online publication 19 January 2017.

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