Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: A new familial case

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Tassano, Elisa ^a   Gimelli, Stefania ^b   Divizia, Maria Teresa ^a   Lerone, Margherita ^a   Vaccari, Carlotta ^c   Puliti, Aldamaria ^a,c   Gimelli, Giorgio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

1q21.1 microdeletion; Array CGH; RBM8A SNPs; TAR syndrome

Indexed keywords

ARM MALFORMATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CD160 GENE; CHILD; CLINICAL FEATURE; CLINODACTYLY; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE FREQUENCY; GESTATIONAL AGE; GNRHR2 GENE; HFE2 GENE; HOMOZYGOSITY; HUMAN; HYPOPLASIA; ITGA10 GENE; LIX1L GENE; MALE; NBPF10 GENE; NBPF20 GENE; NBPF9 GENE; PDZK1 GENE; PEX11B GENE; PIAS3 GENE; PREGNANCY TERMINATION; PRIORITY JOURNAL; RADIUS APLASIA; RBM8A GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; TELANGIECTASIA; THROMBOCYTOPENIA; THROMBOCYTOPENIA ABSENT RADIUS; TXNIP GENE; ULTRASOUND;

EID: 84946213902     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0188-6     Document Type: Article

References (36)

1. Kirov G. A The role of copy number variation in schizophrenia. Expert Rev Neurother. 2010;10:25-32.
2. Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet. 2009;46:223-32.
3. Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 2010;6:e1000962.
4. Vassos E, Collier DA, Holden S, Patch C, Rujescu D, St Clair D, et al. Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet. 2010;19:3477-81.
5. Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature. 2010;463:671-5.
6. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010;42:203-9.
7. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res. 2001;11:1005-17.
8. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, et al. Recent segmental duplications in the human genome. Science. 2002;297:1003-7.
9. Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, et al. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol. 2003;4:R25.
10. She X, Jiang Z, Clark RA, Liu G, Cheng Z, Tuzun E, et al. Shotgun sequence assembly and recent segmental duplications within the human genome. Nature. 2004;431:927-30.
11. Hall J, Levin J, Kuhn J, Ottenheimer E. Berkum Kv, McKusick V. Thrombocytopenia with absent radius (TAR). Medicine. 1969;48:411-39.
12. Klopocki E, Schulze H, Strauss G, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007;80:232-40.
13. Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998;14:417-22.
14. Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002;18:74-82.
15. Lupski JR, Stankiewicz P. Genomic disorders: the genomic basis of disease. Totowa: Humana Press; 2006.
16. Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012;44:435-9.
17. Soranzo N, Spector TD, Mangino M, et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet. 2009;41:1182-90.
18. Bonsi L, Marchionni C, Alviano F, Lanzoni G, Franchina M, et al. Thrombocytopenia with absent radii (TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease? Exp Hematol. 2009;37:1-7.
19. Giordano P, Cecinati V, Grassi M, Giordani L, De Mattia D, Santoro N. Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion. Immunopharmacol Immunotoxicol. 2011;33:754-8.
20. Houeijeh A, Andrieux J, Saugier-Veber P, David A, Goldenberg A, Bonneau D, et al. 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. 2011;54:e471-7.
21. Toriello HV. Thrombocytopenia-absent radius syndrome. Semin Thromb Hemost. 2011;37:707-12.
22. Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, et al. 1q21.1 Study Group. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet. 2012;20:754-61.
23. Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012;44:435-9. S1-2.
24. Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C. New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome. Curr Opin Genet Dev. 2013;23:316-23.
25. Baken L, Groenenberg IA, Hoogeboom AJ, Koning AH, Exalto N. First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality. Clin Dysmorphol. 2014;23:71-3.
26. Yassaee VR, Hashemi-Gorji F, Soltani Z, Poorhosseini SM. A new approach for molecular diagnosis of TAR syndrome. Clin Biochem. 2014;47:835-9.
27. Kumar C, Sharma D, Pandita A, Bhalerao S. Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. Int Med Case Rep J. 2015;8:81-5.
28. Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, et al. Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes. Eur J Med Genet. 2012;55:120-3.
29. Bottillo I, Castori M, De Bernardo C, Fabbri R, Grammatico B, Preziosi N, et al. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. BMC Res Notes. 2013;22:376.
30. Papoulidis I, Oikonomidou E, Orru S, Siomou E, Kontodiou M, Eleftheriades M, et al. Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334 Kb deletion: a case report. Mol Med Rep. 2014;9:163-5.
31. Chuang TW, Lee KM, Tarn WY. Function and Pathological Implications of Exon Junction Complex Factor Y14. Biomol. 2015;5:343-55.
32. Haremaki T, Sridharan J, Dvora S, Weinstein DC. Regulation of vertebrate embryogenesis by the exon junction complex core component Eif4a3. Dev Dyn. 2010;239:1977-87.
33. Perkins AS, Mercer JA, Jenkins NA, Copeland NG. Patterns of Evi-1 expression in embryonic and adult tissues suggest that Evi-1 plays an important regulatory role in mouse development. Development. 1991;111:479-87.
34. Rodel B, Tavassoli K, Karsunky H, Schmidt T, Bachmann M, Schaper F, et al. The zinc finger protein Gfi-1 can enhance STAT3 signaling by interacting with the STAT3 inhibitor PIAS3. EMBO J. 2000;19:5845-55.
35. Hsiao HH, Liu YC, Yang MY, et al. Decreased expression of PIAS1 and PIAS3 in essential thrombocythemia patients. Genet Mol Res. 2013;12:5617-22.
36. Swindell EC, Moeller C, Thaller C, Eichele G. Cloning and expression analysis of chicken Lix1, a founding member of a novel gene family. Mech Dev. 2001;109:405-8.