Genomic Characterization of the Inherited Bone Marrow Failure Syndromes

Shimamura, 2010, Pathophysiology and management of inherited bone marrow failure syndromes, Blood Rev, 24, 101, 10.1016/j.blre.2010.03.002 Alter, 1993, Fanconi anemia Clinton, 1993, Diamond-Blackfan anemia Gullapalli, 2012, Clinical integration of next-generation sequencing technology, Clin Lab Med, 32, 585, 10.1016/j.cll.2012.07.005 Chial, 2008, Rare genetic disorders: learning about genetic disease through gene mapping, SNPs, and microarray data, Nat Educ, 1 Mutz, 2013, Transcriptome analysis using next-generation sequencing, Curr Opin Biotech, 24, 22, 10.1016/j.copbio.2012.09.004 Shendure, 2012, The expanding scope of DNA sequencing, Nat Biotechnol, 30, 1084, 10.1038/nbt.2421 Massie, 2012, Mapping protein-DNA interactions using ChIP-sequencing, Methods Molec Biol, 809, 157, 10.1007/978-1-61779-376-9_11 Anderson, 2012, Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus, Nat Genet, 44, 338, 10.1038/ng.1084 Ballew, 2013, Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita, Hum Genet, 132, 473, 10.1007/s00439-013-1265-8 Walne, 2013, Constitutional mutations in RTEL1 cause severe dyskeratosis congenita, Am J Hum Genet, 92, 448, 10.1016/j.ajhg.2013.02.001 Kacena, 1993, GATA1-related X-linked cytopenia Sankaran, 2012, Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia, J Clin Invest, 122, 2439, 10.1172/JCI63597 Landowski, 2013, Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia, Hum Genet, 10.1007/s00439-013-1326-z Klopocki, 2007, Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome, Am J Hum Genet, 80, 232, 10.1086/510919 Albers, 2012, Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome, Nature Genet, 44, 435, 10.1038/ng.1083 Bogliolo, 2013, Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia, Am J Hum Genet, 92, 800, 10.1016/j.ajhg.2013.04.002 Knies, 2012, Genotyping of Fanconi anemia patients by whole exome sequencing: advantages and challenges, PloS ONE, 7, e52648, 10.1371/journal.pone.0052648 Ameziane, 2012, Diagnosis of Fanconi anemia: mutation analysis by next-generation sequencing, Anemia, 13, 28 Schuster, 2013, Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP, Hum Mutat, 34, 93, 10.1002/humu.22221 Chandrasekharappa, 2013, Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia, Blood, 121, e138, 10.1182/blood-2012-12-474585 Gille, 2012, Diagnosis of Fanconi anemia: mutation analysis by multiplex ligation-dependent probe amplification and PCR-based Sanger sequencing, Anemia, 60, 32 Soulier, 2011, Fanconi anemia, Hematology/the Education Program of the American Society of HematologyAmerican Society of HematologyEducation Program, 2011, 492 Alter, 2013, VACTERL-H association and Fanconi anemia, Molec Syndrom, 4, 87, 10.1159/000346035 Velazquez, 2004, Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditions, Am J Hematol, 77, 257, 10.1002/ajh.20183 Alter, 2010, Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study, Br J Haematol, 150, 179 Alter, 2007, Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2, J Med Genet, 44, 1, 10.1136/jmg.2006.043257 Kitao, 2011, Fanconi anemia: a disorder defective in the DNA damage response, Intern J Hematol, 93, 417, 10.1007/s12185-011-0777-z Rosenberg, 2011, How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel, Am J Med Genet, 155A, 1877, 10.1002/ajmg.a.34087 Verlander, 1995, Carrier frequency of the IVS4 + 4 A→T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population, Blood, 86, 4034, 10.1182/blood.V86.11.4034.bloodjournal86114034 Pronk, 1995, A gene to chromosome 16q24.3, Nat Genet, 11, 338, 10.1038/ng1195-338 Chandra, 2005, A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients, Molec Therapeut, 12, 976, 10.1016/j.ymthe.2005.04.021 Sijbers, 1996, Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease, Cell, 86, 811, 10.1016/S0092-8674(00)80155-5 Niedernhofer, 2006, A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis, Nature, 444, 1038, 10.1038/nature05456 Shamseldin, 2012, Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation, J Med Genet, 49, 184, 10.1136/jmedgenet-2011-100585 Ballew, 2013, Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders, Expert Rev Hematol, 6, 327, 10.1586/ehm.13.23 Savage, 2009, Dyskeratosis congenita, Hematol Oncol Clin North Am, 23, 215, 10.1016/j.hoc.2009.01.003 Alter, 2009, Cancer in dyskeratosis congenita, Blood, 113, 6549, 10.1182/blood-2008-12-192880 Savage, 2010, The genetics and clinical manifestations of telomere biology disorders, Genet Med, 12, 753, 10.1097/GIM.0b013e3181f415b5 Vulliamy, 2006, Dyskeratosis congenita, Semin Hematol, 43, 157, 10.1053/j.seminhematol.2006.04.001 Khincha, 2012, Response to androgen therapy and side effects in patients with dyskeratosis congenita, Blood (ASH Annual Meeting abstracts), 120, 2361 Islam, 2013, Haematological recovery in dyskeratosis congenita patients treated with danazol, Br J Haematol, 162, 854, 10.1111/bjh.12432 Alter, 2007, Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita, Blood, 110, 1439, 10.1182/blood-2007-02-075598 Alter, 2012, Telomere length is associated with disease severity and declines with age in dyskeratosis congenita, Haematologica, 97, 353, 10.3324/haematol.2011.055269 Savage, 1993, Dyskeratosis congenita Knight, 1999, Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1, Br J Haematol, 107, 335, 10.1046/j.1365-2141.1999.01690.x Vulliamy, 2001, The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita, Nature, 413, 432, 10.1038/35096585 Armanios, 2005, Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita, Proc Nat Ac Sci U S A, 102, 15960, 10.1073/pnas.0508124102 Diaz de Leon, 2010, Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations, PloS ONE, 5, e10680, 10.1371/journal.pone.0010680 Armanios, 2007, Telomerase mutations in families with idiopathic pulmonary fibrosis, N Engl J Med, 356, 1317, 10.1056/NEJMoa066157 Vulliamy, 2005, Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure, Blood Cells Mol Dis, 34, 257, 10.1016/j.bcmd.2004.12.008 Yamaguchi, 2005, Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia, N Engl J Med, 352, 1413, 10.1056/NEJMoa042980 Savage, 2008, TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita, Am J Hum Genet, 82, 501, 10.1016/j.ajhg.2007.10.004 Walne, 2007, Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10, Hum Molec Genet, 16, 1619, 10.1093/hmg/ddm111 Vulliamy, 2008, Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita, Proc Natl Acad Sci U S A, 105, 8073, 10.1073/pnas.0800042105 Zhong, 2011, Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita, Genes Dev, 25, 11, 10.1101/gad.2006411 Touzot, 2010, Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome, Proc Natl Acad Sci U S A, 107, 10097, 10.1073/pnas.0914918107 Walne, 2010, Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome, Hum Molec Genet, 19, 4453, 10.1093/hmg/ddq371 Polvi, 2012, Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts, Am J Hum Genet, 90, 540, 10.1016/j.ajhg.2012.02.002 Savage, 2012, Connecting complex disorders through biology, Nat Genet, 44, 238, 10.1038/ng.2206 Keller, 2012, CTC1 Mutations in a patient with dyskeratosis congenita, Pediatr Blood Cancer, 59, 311, 10.1002/pbc.24193 Le Guen, 2013, Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability, Hum Molec Genet, 22, 3239, 10.1093/hmg/ddt178 Gazda, 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, 10.1016/j.ajhg.2008.11.004 Vlachos, 2012, Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry, Blood, 119, 3815, 10.1182/blood-2011-08-375972 Lipton, 2009, Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis, Hematol Oncol Clin North Am, 23, 261, 10.1016/j.hoc.2009.01.004 Glader, 1983, Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia, N Engl J Med, 309, 1486, 10.1056/NEJM198312153092404 Fargo, 2013, Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia, Br J Haematol, 160, 547, 10.1111/bjh.12167 Vlachos, 2008, Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference, Br J Haematol, 142, 859, 10.1111/j.1365-2141.2008.07269.x Ellis, 2008, Diamond Blackfan anemia: a disorder of red blood cell development, Curr Topics Dev Biol, 82, 217, 10.1016/S0070-2153(07)00008-7 Draptchinskaia, 1999, The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia, Nat Genet, 21, 169, 10.1038/5951 Horos, 2012, Molecular mechanisms of pathology and treatment in Diamond Blackfan anaemia, Br J Haematol, 159, 514 Boria, 2008, A new database for ribosomal protein genes which are mutated in Diamond-Blackfan anemia, Hum Mutat, 29, E263, 10.1002/humu.20864 Boria, 2010, The ribosomal basis of Diamond-Blackfan anemia: mutation and database update, Hum Mutat, 31, 1269, 10.1002/humu.21383 Doherty, 2010, Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia, Am J Hum Genet, 86, 222, 10.1016/j.ajhg.2009.12.015 Gazda, 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, 10.1002/humu.22081 Farrar, 2008, Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia, Blood, 112, 1582, 10.1182/blood-2008-02-140012 Cmejla, 2007, Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia, Hum Mutat, 28, 1178, 10.1002/humu.20608 Weiss, 2012, What's in a name?, J Clin Invest, 122, 2346, 10.1172/JCI63989 Mirabello, 2012, RPS29 is mutated in a multi-case Diamond Blackfan anemia family, Blood (ASH Annual Meeting Abstracts), 120, 511 Taylor, 2012, Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activation, Exp Hematol, 40, 228, 10.1016/j.exphem.2011.11.007 Toriello, 2011, Thrombocytopenia-absent radius syndrome, Semin Thromb Hemost, 37, 707, 10.1055/s-0031-1291381 Albers, 2013, New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome, Curr Opin Genet Dev, 23, 316, 10.1016/j.gde.2013.02.015 Go, 2003, Acute myelogenous leukemia in an adult with thrombocytopenia with absent radii syndrome, Eur J Haematol, 70, 246, 10.1034/j.1600-0609.2003.00054.x Fadoo, 2002, Acute myeloid leukemia in a patient with thrombocytopenia with absent radii syndrome, J Pediatr Hematol Oncol, 24, 134, 10.1097/00043426-200202000-00015 Coccia, 2012, Management of children with thrombocytopenia-absent radius syndrome: an institutional experience, J Paediatr Child Health, 48, 166, 10.1111/j.1440-1754.2011.02069.x Ward, 1986, Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome, Am J Med Genet Suppl, 2, 207, 10.1002/ajmg.1320250625 Houeijeh, 2011, Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling, Eur J Med Genet, 54, e471, 10.1016/j.ejmg.2011.05.001 Cullinane, 2011, Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia, J Invest Dermatol, 131, 2017, 10.1038/jid.2011.157 Kirwan, 2012, Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia, Am J Hum Genet, 90, 888, 10.1016/j.ajhg.2012.03.020 Walne, 2012, Exome sequencing identifies MPL as a causative gene in familial aplastic anemia, Haematologica, 97, 524, 10.3324/haematol.2011.052787 Hsu, 2011, Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome, Blood, 118, 2653, 10.1182/blood-2011-05-356352 Stepensky, 2013, The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy, Blood, 121, 5078, 10.1182/blood-2012-12-475566 Abuzenadah, 2013, Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing, J Thromb Thrombolysi, 10.1007/s11239-012-0864-x Geddis, 2011, Congenital amegakaryocytic thrombocytopenia, Pediatr Blood Cancer, 57, 199, 10.1002/pbc.22927 Fogarty, 2003, Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA, Lancet, 362, 1628, 10.1016/S0140-6736(03)14797-6 Ivker, 1993, Dyskeratosis congenita or chronic graft-versus-host disease? A diagnostic dilemma in a child eight years after bone marrow transplantation for aplastic anemia, Pediatr Dermatol, 10, 362, 10.1111/j.1525-1470.1993.tb00400.x Gramatges, 2013, Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy, Translat Res, 10.1016/j.trsl.2013.05.003 Biswas, 2011, A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay, Blood, 118, 2430, 10.1182/blood-2010-12-324541 Shah, 2013, Assessment of SLX4 mutations in hereditary breast cancers, PLoS ONE, 8, e66961, 10.1371/journal.pone.0066961 Filippini1, 2013, Breast cancer genes: beyond BRCA1 and BRCA2, Frontiers Biosci, 18, 1358, 10.2741/4185 Thompson, 2012, Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles, PLoS Genetics, 8, e1002894, 10.1371/journal.pgen.1002894 Park, 2012, Rare mutations in XRCC2 increase the risk of breast cancer, Am J Hum Genet, 90, 734, 10.1016/j.ajhg.2012.02.027 Kuliev, 2005, Preimplantation genetics: improving access to stem cell therapy, Ann NY Acad Sci, 1054, 223, 10.1196/annals.1345.028 Green, 2013, ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing, Genet Med, 15, 565, 10.1038/gim.2013.73 Abdul-Karim, 2013, Disclosure of incidental findings from next-generation sequencing in pediatric genomic research, Pediatrics, 131, 564, 10.1542/peds.2012-0084