Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

Human Genetics

Volumn 132, Issue 11, 2013, Pages 1265-1274

  Landowski, Michael ^a   O'Donohue, Marie Françoise ^b,c   Buros, Christopher ^a   Ghazvinian, Roxanne ^a   Montel Lehry, Nathalie ^b,c   Vlachos, Adrianna ^d,e   Sieff, Colin A ^a,f   Newburger, Peter E ^g   Niewiadomska, Edyta ^h   Matysiak, Michal ^h   Glader, Bertil ⁱ   Atsidaftos, Eva ^d,e   Lipton, Jeffrey M ^d,e   Beggs, Alan H ^a,f   Gleizes, Pierre Emmanuel ^b,c   Gazda, Hanna T ^a,f  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITÉ DE TOULOUSE   (France)

^c Université Paul Sabatier   (France)

^d FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^e Northwell Health   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^h MEDICAL UNIVERSITY OF WARSAW   (Poland)

ⁱ STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARM MALFORMATION; ARTICLE; BLACKFAN DIAMOND ANEMIA; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; EXON; FEMALE; GATA1 GENE; GENE; GENE DELETION; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; MALE; MICROARRAY ANALYSIS; PRIORITY JOURNAL; RPL11 GENE; RPL15 GENE; RPL26 GENE; RPL35A GENE; RPL5 GENE; RPS10 GENE; RPS17 GENE; RPS19 GENE; RPS24 GENE; RPS26 GENE; RPS7 GENE; URINARY TRACT MALFORMATION;

ANEMIA, DIAMOND-BLACKFAN; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; GENE DELETION; GENE KNOCKDOWN TECHNIQUES; HELA CELLS; HUMANS; MUTATION; RIBOSOMAL PROTEINS; RNA, RIBOSOMAL; RNA, SMALL INTERFERING;

EID: 84888358321     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1326-z     Document Type: Article

References (28)

1. Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC (1996) Diamond-Blackfan anaemia in the UK: analysis of 80 cases from a 20-year birth cohort. Br J Haematol 94:645-653
2. Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45-48
3. Campagnoli MF, Garelli E, Quarello P, Carando A, Sv SV, Nobili B, Dl DL, Pecile V, Zecca M, Dufour C, Ramenghi U, Dianzan I (2004) Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica 89:480-489
4. Ceulemans S, van der Ven K, Del-Favero J (2012) Targeted screening and validation of copy number variations. Methods Mol Biol 838:311-328
5. Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Cretien A, Leblanc T, Tchernia G, Da Costa L, Gleizes PE (2007) Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood 109:1275-1283
6. Choesmel V, Fribourg S, Aguissa-Toure AH, Pinaud N, Legrand P, Gazda HT, Gleizes PE (2008) Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. Hum Mol Genet 17:1253-1263
7. Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D (2007) Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum Mutat 28:1178-1182
8. Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT (2010) Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet 86:222-228
9. 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 (1999) The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 21:169-175
10. Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC Jr, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ (2008) Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 112:1582-1592
11. Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM (2011) Ribosomal protein gene deletions in Diamond-Blackfan anemia. Blood 118:6943-6951
12. Flygare J, Aspesi A, Bailey JC, Miyake K, Caffrey JM, Karlsson S, Ellis SR (2007) Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood 109:980-986
13. Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA (2006) Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 79:1110-1118
14. Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH (2008) Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet 83:769-780
15. Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH (2012) Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia. Hum Mutat 33:1037-1044
16. Glader BE, Backer K (1988) Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br J Haematol 68:165-168
17. Gregory LA, Aguissa-Toure AH, Pinaud N, Legrand P, Gleizes PE, Fribourg S (2007) Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19. Nucleic Acids Res 35:5913-5921
18. Idol RA, Robledo S, Du HY, Crimmins DL, Wilson DB, Ladenson JH, Bessler M, Mason PJ (2007) Cells depleted for RPS19, a protein associated with Diamond Blackfan anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. Blood Cells Mol Dis 39:35-43
19. Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Kojima S, Kitoh T, Goi K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I (2012) Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood 119:2376-2384
20. Lipton JM, Atsidaftos E, Zyskind I, Vlachos A (2006) Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan anemia registry. Pediatr Blood Cancer 46:558-564
21. O'Donohue MF, Choesmel V, Faubladier M, Fichant G, Gleizes PE (2010) Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits. J Cell Biol 190:853-866
22. Orfali KA, Ohene-Abuakwa Y, Ball SE (2004) Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. Br J Haematol 125:243-252
23. Preti M, O'Donohue MF, Montel-Lehry N, Bortolin-Cavaille ML, Choesmel V, Gleizes PE (2013) Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA. Nucleic Acids Res 41:4709-4723
24. Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U (2012) High frequency of ribosomal protein gene deletions in Italian Diamond Blackfan anemia patients detected by multiplex ligation-dependent probe amplification (MLPA) assay. Haematologica 97:1813-1817
25. Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT (2012) Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest 122:2439-2443
26. Song MJ, Yoo EH, Lee KO, Kim GN, Kim HJ, Kim SY, Kim SH (2010) A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia. Pediatr Blood Cancer 54:629-631
27. Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM (2008) Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol 142:859-876
28. Willig TN, Niemeyer CM, Leblanc T, Tiemann C, Robert A, Budde J, Lambiliotte A, Kohne E, Souillet G, Eber S, Stephan JL, Girot R, Bordigoni P, Cornu G, Blanche S, Guillard JM, Mohandas N, Tchernia G (1999) Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d'Hematologie et d'Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res 46:553-561