References
- Lipton JM, Ellis SR. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am. 2009;23(2):261–282. doi:https://doi.org/10.1016/j.hoc.2009.01.004.
- Vlachos A, Ball S, Dahl N, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142(6):859–876. doi:https://doi.org/10.1111/j.1365-2141.2008.07269.x.
- Ohene-Abuakwa Y, Orfali KA, Marius C, Ball SE. Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect. Blood. 2005;105(2):838–846. doi:https://doi.org/10.1182/blood-2004-03-1016.
- Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum Mutat. 2007;28(12):1178–1182. doi:https://doi.org/10.1002/humu.20608.
- Doherty L, Sheen MR, Vlachos A, et al. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2010;86(2):222–228. doi:https://doi.org/10.1016/j.ajhg.2009.12.015.
- Draptchinskaia N, Gustavsson P, Andersson B, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999;21(2):169–175. doi:https://doi.org/10.1038/5951.
- Farrar JE, Nater M, Caywood E, et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008;112(5):1582–1592. doi:https://doi.org/10.1182/blood-2008-02-140012.
- Farrar JE, Quarello P, Fisher R, et al. Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. Am J Hematol. 2014;89(10):985–991. doi:https://doi.org/10.1002/ajh.23807.
- Gazda HT, Grabowska A, Merida-Long LB, et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006;79(6):1110–1118. doi:https://doi.org/10.1086/510020.
- Gazda HT, Preti M, Sheen MR, et al. 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. 2012;33(7):1037–1044. doi:https://doi.org/10.1002/humu.22081.
- Gazda HT, Sheen MR, Vlachos A, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008;83(6):769–780. doi:https://doi.org/10.1016/j.ajhg.2008.11.004.
- Gripp KW, Curry C, Olney AH, et al. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A. 2014;164A(9):2240–2249. doi:https://doi.org/10.1002/ajmg.a.36633.
- Ikeda F, Yoshida K, Toki T, et al. Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. Haematologica. 2017;102(3):e93–e96. doi:https://doi.org/10.3324/haematol.2016.153932.
- Landowski M, O’Donohue MF, Buros C, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013;132(11):1265–1274. doi:https://doi.org/10.1007/s00439-013-1326-z.
- Mirabello L, Khincha PP, Ellis SR, et al. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. J Med Genet. 2017;54(6):417–425. doi:https://doi.org/10.1136/jmedgenet-2016-104346.
- Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012;122(7):2439–2443. doi:https://doi.org/10.1172/jci63597.
- Wang R, Yoshida K, Toki T, et al. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Br J Haematol. 2015;168(6):854–864. doi:https://doi.org/10.1111/bjh.13229.
- Lezzerini M, Penzo M, O’Donohue MF, et al. Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism. Nucleic Acids Res. 2020;48(2):770–787. doi:https://doi.org/10.1093/nar/gkz1042.
- Parrella S, Aspesi A, Quarello P, et al. Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. Pediatr Blood Cancer. 2014;61(7):1319–1321. doi:https://doi.org/10.1002/pbc.24944.
- Dutt S, Narla A, Lin K, et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood. 2011;117(9):2567–2576. doi:https://doi.org/10.1182/blood-2010-07-295238.
- Jaako P, Flygare J, Olsson K, et al. Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia. Blood. 2011;118(23):6087–6096. doi:https://doi.org/10.1182/blood-2011-08-371963.
- Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database (HGMD(®)): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139(10):1197–1207. doi:https://doi.org/10.1007/s00439-020-02199-3.
- Proust A, Da Costa L, Rince P, et al. Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. Hematol J. 2003;4(2):132–136. doi:https://doi.org/10.1038/sj.thj.6200230.
- Willig TN, Draptchinskaia N, Dianzani I, et al. Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Blood. 1999;94(12):4294–4306.
- Horinouchi T, Nozu K, Yamamura T, et al. Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay. Sci Rep. 2019;9(1):12696. doi:https://doi.org/10.1038/s41598-019-48990-9.
- Inoue T, Nagano C, Matsuo M, et al. Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. Clin Exp Nephrol. 2020;24(7):606–612. doi:https://doi.org/10.1007/s10157-020-01876-x.
- Nakanishi K, Nozu K, Hiramoto R, et al. A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome. Eur J Med Genet. 2017;60(12):631–634. doi:https://doi.org/10.1016/j.ejmg.2017.08.001.
- Nozu K, Iijima K, Kawai K, et al. In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. Hum Genet. 2009;126(4):533–538. doi:https://doi.org/10.1007/s00439-009-0697-7.
- Tsuji Y, Nozu K, Sofue T, et al. Detection of a splice site variant in a patient with glomerulopathy and fibronectin deposits. Nephron. 2018;138(2):166–171. doi:https://doi.org/10.1159/000484209.
- Yamamura T, Nozu K, Miyoshi Y, et al. An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis. BMC Nephrol. 2017;18(1):353. doi:https://doi.org/10.1186/s12882-017-0774-4.
- Yamamura T, Nozu K, Ueda H, et al. Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes. J Hum Genet. 2018;63(6):755–759. doi:https://doi.org/10.1038/s10038-018-0436-9.
- Ferraresi P, Balestra D, Guittard C, et al. Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency. Haematologica. 2020;105(3):829–837. doi:https://doi.org/10.3324/haematol.2019.217539.
- Lee JD, Hsiao KM, Chang PJ, et al. A common polymorphism decreases LRP1 mRNA stability and is associated with increased plasma factor VIII levels. Biochim Biophys Acta Mol Basis Dis. 2017;1863(6):1690–1698. doi:https://doi.org/10.1016/j.bbadis.2017.04.015.
- Mattioli C, Pianigiani G, De Rocco D, et al. Unusual splice site mutations disrupt FANCA exon 8 definition. Biochim Biophys Acta. 2014;1842(7):1052–1058. doi:https://doi.org/10.1016/j.bbadis.2014.03.014.
- Palagano E, Susani L, Menale C, et al. Synonymous mutations add a layer of complexity in the diagnosis of human osteopetrosis. J Bone Miner Res. 2017;32(1):99–105. doi:https://doi.org/10.1002/jbmr.2929.
- Pang Y, Gupta G, Yang C, et al. A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report. BMC Cancer. 2018;18(1):286. doi:https://doi.org/10.1186/s12885-018-4127-x.
- Shimada T, Inokuchi K, Nienhuis AW. Site-specific demethylation and normal chromatin structure of the human dihydrofolate reductase gene promoter after transfection into CHO cells. Mol Cell Biol. 1987;7(8):2830–2837. doi:https://doi.org/10.1128/MCB.7.8.2830.
- Wang W, Golding B. The cytotoxic T lymphocyte response against a protein antigen does not decrease the antibody response to that antigen although antigen-pulsed B cells can be targets. Immunol Lett. 2005;100(2):195–201. doi:https://doi.org/10.1016/j.imlet.2005.04.003.
- Xie X, Chen C, Liang Q, et al. Characterization of two large duplications of F9 associated with mild and severe haemophilia B, respectively. Haemophilia. 2019;25(3):475–483. doi:https://doi.org/10.1111/hae.13704.
- Yu T, Wang X, Ding Q, et al. Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree. Haemophilia. 2009;15(6):1262–1266. doi:https://doi.org/10.1111/j.1365-2516.2009.02064.x.
- Zhou J, Ding Q, Wu W, et al. Dysfibrinogenemia-associated novel heterozygous mutation, Shanghai (FGA c.169_180 + 2 del), leads to N-terminal truncation of fibrinogen Aα chain and impairs fibrin polymerization. J Clin Pathol. 2017;70(2):145–153. doi:https://doi.org/10.1136/jclinpath-2016-203862.
- Akram T, Fatima A, Klar J, et al. Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele. Int J Hematol. 2020;112(6):894–899. doi:https://doi.org/10.1007/s12185-020-02950-6.
- Zhu B, Cai G, Hall EO, Freeman GJ. In-fusion assembly: seamless engineering of multidomain fusion proteins, modular vectors, and mutations. Biotechniques. 2007;43(3):354–359. doi:https://doi.org/10.2144/000112536.
- Ramenghi U, Campagnoli MF, Garelli E, et al. Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. Blood Cells Mol Dis. 2000;26(5):417–422. doi:https://doi.org/10.1006/bcmd.2000.0324.
- Thi Tran HT, Takeshima Y, Surono A, Yagi M, Wada H, Matsuo M. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro. Mol Genet Metab. 2005;85(3):213–219. doi:https://doi.org/10.1016/j.ymgme.2005.03.006.
- Tran VK, Takeshima Y, Zhang Z, et al. A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient. Hum Genet. 2007;120(5):737–742. doi:https://doi.org/10.1007/s00439-006-0241-y.
- Desmet F-O, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009;37(9):e67. doi:https://doi.org/10.1093/nar/gkp215.
- Ottesen EW. ISS-N1 makes the first FDA-approved drug for spinal muscular atrophy. Transl Neurosci. 2017;8:1–6. doi:https://doi.org/10.1515/tnsci-2017-0001.
- Traynor K. Eteplirsen approved for Duchenne muscular dystrophy. Am J Health Syst Pharm. 2016;73(21):1719. doi:https://doi.org/10.2146/news160063.
- Yamamura T, Horinouchi T, Adachi T, et al. Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5. Nat Commun. 2020;11(1):2777. doi:https://doi.org/10.1038/s41467-020-16605-x.