Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing

被引：14

作者：

Ichimura, Takuya ^{[1
]}

Yoshida, Kenichi ^{[2
]}

Okuno, Yusuke ^{[3
,4
]}

Yujiri, Toshiaki ^{[5
]}

Nagai, Kozo ^{[6
]}

Nishi, Masanori ^{[6
]}

Shiraishi, Yuichi ^{[7
]}

Ueno, Hiroo ^{[2
]}

Toki, Tsutomu ^{[8
]}

Chiba, Kenichi ^{[7
]}

Tanaka, Hiroko ^{[9
]}

Muramatsu, Hideki ^{[3
]}

Hara, Toshiro ^{[10
]}

Kanno, Hitoshi ^{[11
]}

Kojima, Seiji ^{[3
]}

Miyano, Satoru ^{[7
,9
]}

Ito, Etsuro ^{[8
]}

Ogawa, Seishi ^{[2
]}

Ohga, Shouichi ^{[1
,10
]}

机构：

[1] Yamaguchi Univ, Dept Pediat, Grad Sch Med, 1-1-1 Minami Kogushi, Ube, Yamaguchi 7558505, Japan

[2] Kyoto Univ, Grad Sch Med, Dept Pathol & Tumor Biol, Sakyo Ku, Yoshida Konoe Cho, Kyoto, Kyoto 6068501, Japan

[3] Nagoya Univ, Dept Pediat, Grad Sch Med, Showa Ku, 65 Tsurumai Cho, Nagoya, Aichi 4668550, Japan

[4] Nagoya Univ Hosp, Ctr Adv Med & Clin Res, Showa Ku, 65 Tsurumai Cho, Nagoya, Aichi 4668550, Japan

[5] Yamaguchi Univ, Dept Internal Med 3, Grad Sch Med, 1-1-1 Minami Kogushi, Ube, Yamaguchi 7558505, Japan

[6] Saga Univ, Dept Pediat, Fac Med, 5-1-1 Nabeshima, Saga 8498501, Japan

[7] Univ Tokyo, Inst Med Sci, Human Genome Ctr, Lab DNA Informat Anal,Minato Ku, 4-6-1 Shirokanedai, Tokyo 1088639, Japan

[8] Hirosaki Univ, Dept Pediat, Grad Sch Med, 5 Zaifu Cho, Hirosaki, Aomori 0368562, Japan

[9] Univ Tokyo, Inst Med Sci, Human Genome Ctr, Lab Sequence Anal,Minato Ku, 4-6-1 Shirokanedai, Tokyo 1088639, Japan

[10] Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Higashi Ku, 3-1-1 Maidashi, Fukuoka 8128582, Japan

[11] Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Shinjuku Ku, 8-1 Kawada Cho, Tokyo 1628666, Japan

来源：

INTERNATIONAL JOURNAL OF HEMATOLOGY | 2017年 / 105卷 / 04期

关键词：

Diamond-Blackfan anemia; Ribosomal protein; Inherited bone marrow failure syndrome; Whole-exome sequencing; RIBOSOMAL-PROTEIN GENES; JAPANESE PATIENTS; MUTATIONS; ABNORMALITIES; REGISTRY; GATA1;

D O I：

10.1007/s12185-016-2151-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Diamond-Blackfan anemia (DBA) is a pure red cell aplasia that arises from defective ribosomal proteins (RPs). Patients with this rare ribosomopathy present with neonatal anemia and occasional dysmorphism. Clinical heterogeneity and clusters of causative RP genes hamper the diagnosis and perinatal management. We report three mother-and-child pairs of anemia who were finally diagnosed by whole-exome sequencing. Each pair showed distinct disease severity and response to anemia treatment. Only one mother had the diagnostic dysmorphism, including short stature, webbed neck, and thenar hypo-plasia. This mother had a frame-shift mutation of RPL11 (exon 3, c.58_59del). Her infant showed transient neonatal anemia, but had no mutations of RP genes. The other mother-child pairs had a missense mutation of RPS19 (exon 4, c.185G > A), and a splicing error of RPS7 (exon 3, c.76-1G > T), respectively. Other than the reported mutations, there were no variants in genes significantly associated with anemia. Our results suggested that whole-exome sequencing (WES) is effective for achieving a prompt and correct diagnosis of human ribosomopathy.

引用

页码：515 / 520

页数：6

共 30 条

[1] TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors [J].

Bibikova, Elena ;

Youn, Min-Young ;

Danilova, Nadia ;

Ono-Uruga, Yukako ;

Konto-Ghiorghi, Yoan ;

Ochoa, Rachel ;

Narla, Anupama ;

Glader, Bertil ;

Lin, Shuo ;

Sakamoto, Kathleen M. .

BLOOD, 2014, 124 (25) :3791-3798

[2] Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia [J].

Cmejla, Radek ;

Cmejlova, Jana ;

Handrkova, Helena ;

Petrak, Jiri ;

Pospisilova, Dagmar .

HUMAN MUTATION, 2007, 28 (12) :1178-1182

[3] Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia [J].

Doherty, Leana ;

Sheen, Mee Rie ;

Vlachos, Adrianna ;

Choesmel, Valerie ;

O'Donohue, Marie-Francoise ;

Clinton, Catherine ;

Schneider, Hal E. ;

Sieff, Colin A. ;

Newburger, Peter E. ;

Ball, Sarah E. ;

Niewiadomska, Edyta ;

Matysiak, Michal ;

Glader, Bertil ;

Arceci, Robert J. ;

Farrar, Jason E. ;

Atsidaftos, Eva ;

Lipton, Jeffrey M. ;

Gleizes, Pierre-Emmanuel ;

Gazda, Hanna T. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (02) :222-228

[4] The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia [J].

Draptchinskaia, N ;

Gustavsson, P ;

Andersson, B ;

Pettersson, M ;

Willig, TN ;

Dianzani, I ;

Ball, S ;

Tchernia, G ;

Klar, J ;

Matsson, H ;

Tentler, D ;

Mohandas, N ;

Carlsson, B ;

Dahl, N .

NATURE GENETICS, 1999, 21 (02) :169-175

[5] Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells [J].

Dutt, Shilpee ;

Narla, Anupama ;

Lin, Katherine ;

Mullally, Ann ;

Abayasekara, Nirmalee ;

Megerdichian, Christine ;

Wilson, Frederick H. ;

Currie, Treeve ;

Khanna-Gupta, Arati ;

Berliner, Nancy ;

Kutok, Jeffery L. ;

Ebert, Benjamin L. .

BLOOD, 2011, 117 (09) :2567-2576

[6] Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia [J].

Fargo, John H. ;

Kratz, Christian P. ;

Giri, Neelam ;

Savage, Sharon A. ;

Wong, Carolyn ;

Backer, Karen ;

Alter, Blanche P. ;

Glader, Bertil .

BRITISH JOURNAL OF HAEMATOLOGY, 2013, 160 (04) :547-554

[7] Abnormalities of the large ribosomal subunit protein, Rp135a, in Diamond-Blackfan anemia [J].

Farrar, Jason E. ;

Nater, Michelle ;

Caywood, Emi ;

McDevitt, Michael A. ;

Kowalski, Jeanne ;

Takemoto, Clifford M. ;

Talbot, C. Conover, Jr. ;

Meltzer, Paul ;

Esposito, Diane ;

Beggs, Alan H. ;

Schneider, Hal E. ;

Grabowska, Agnieszka ;

Ball, Sarah E. ;

Niewiadomska, Edyta ;

Sieff, Colin A. ;

Vlachos, Adrianna ;

Atsidaftos, Eva ;

Ellis, Steven R. ;

Lipton, Jeffrey M. ;

Gazda, Hanna T. ;

Areci, Robert J. .

BLOOD, 2008, 112 (05) :1582-1592

[8] Ribosomal protein S24 gene is mutated in diamond-blackfan anemia [J].

Gazda, Hanna T. ;

Grabowska, Agnieszka ;

Merida-Long, Lilia B. ;

Latawiec, Elzbieta ;

Schneider, Hal E. ;

Lipton, Jeffrey M. ;

Vlachos, Adrianna ;

Atsidaftos, Eva ;

Ball, Sarah E. ;

Orfali, Karen A. ;

Niewiadomska, Edyta ;

Da Costa, Lydie ;

Tchernia, Gil ;

Niemeyer, Charlotte ;

Meerpohl, Joerg J. ;

Stahl, Joachim ;

Schratt, Gerhard ;

Glader, Bertil ;

Backer, Karen ;

Wong, Carolyn ;

Nathan, David G. ;

Beggs, Alan H. ;

Sieff, Colin A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (06) :1110-1118

[9] Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia [J].

Gazda, Hanna T. ;

Preti, Milena ;

Sheen, Mee Rie ;

O'Donohue, Marie-Francoise ;

Vlachos, Adrianna ;

Davies, Stella M. ;

Kattamis, Antonis ;

Doherty, Leana ;

Landowski, Michael ;

Buros, Christopher ;

Ghazvinian, Roxanne ;

Sieff, Colin A. ;

Newburger, Peter E. ;

Niewiadomska, Edyta ;

Matysiak, Michal ;

Glader, Bertil ;

Atsidaftos, Eva ;

Lipton, Jeffrey M. ;

Gleizes, Pierre-Emmanuel ;

Beggs, Alan H. .

HUMAN MUTATION, 2012, 33 (07) :1037-1044

[10] Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients [J].

Gazda, Hanna T. ;

Sheen, Mee Rie ;

Vlachos, Adrianna ;

Choesmel, Valerie ;

O'Donohue, Marie-Francoise ;

Schneider, Hal ;

Darras, Natasha ;

Hasman, Catherine ;

Sieff, Colin A. ;

Newburger, Peter E. ;

Ball, Sarah E. ;

Niewiadomska, Edyta ;

Matysiak, Michal ;

Zaucha, Jan M. ;

Glader, Bertil ;

Niemeyer, Charlotte ;

Meerpohl, Joerg J. ;

Atsidaftos, Eva ;

Lipton, Jeffrey M. ;

Gleizes, Pierre-Emmanuel ;

Beggs, Alan H. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (06) :769-780

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