|
| Status |
Public on Nov 05, 2013 |
| Title |
5q- Myelodysplastic Syndrome Masquerading as Diamond Blackfan Anemia |
| Organism |
Homo sapiens |
| Experiment type |
SNP genotyping by SNP array
Expression profiling by array
|
| Summary |
Diamond Blackfan anemia is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, often with associated physical abnormalities. Perturbations of the ribosome appear critically important to the development of DBA, as alterations in 9 different ribosomal protein genes have been identified in multiple unrelated families, along with rarer abnormalities of additional ribosomal proteins. However, presently only 50-60% of patients have an identifiable genetic lesion by ribosomal protein gene sequencing. Using genome-wide SNP array to evaluate for regions of recurrent copy variation, we identified 2 patients with mosaic loss in the region of the the chromosome 5-deleted region involved in somatically-acquired 5q- myelodysplastic syndrome.
|
| |
|
| Overall design |
Samples were analyzed on Illumina HumanOmni1_Quad, HumanOmniExpress, or HumanOmniExpressExome Genotyping bead arrays; 1 patient was available for longitudinal study including assessment of mosaicism in lymphoid and myeloid-enriched cell populations before treatement with lenolidamide. Similar studies were performed while on lenoldamide therapy in peripheral blood at 3 months and in bone marrow at 20 months of treatment. One patient with mosaic deletion of 5q was available for longitudinal study including assessment of gene expression in bone marrow before and during treatment with lenalidomide.
|
| |
|
| Contributor(s) |
Farrar JE, Vlachos A, MLipton J, MBodine D |
| Citation(s) |
23943650 |
| Submission date |
Nov 28, 2012 |
| Last update date |
Dec 06, 2018 |
| Contact name |
Jason Eli Farrar |
| E-mail(s) |
jefarrar@uams.edu
|
| Phone |
501-603-1224
|
| Organization name |
University of Arkansas for Medical Sciences
|
| Department |
Pediatrics/Hematology-Oncology
|
| Street address |
1 Children's Way, #512-10
|
| City |
Little Rock |
| State/province |
AR |
| ZIP/Postal code |
72202 |
| Country |
USA |
| |
|
| Platforms (4)
|
| GPL571 |
[HG-U133A_2] Affymetrix Human Genome U133A 2.0 Array |
| GPL8882 |
Illumina HumanOmni1-Quad BeadChip |
| GPL13135 |
HumanOmniExpress BeadChip |
| GPL16333 |
Infinium HumanOmniExpressExome BeadChip |
|
| Samples (14)
|
| GSM1045316 |
PeripheralBlood_DBA_Proband_0673_Untreated |
| GSM1045317 |
PeripheralBloodLymphoid_DBA_Proband_0673_Untreated |
| GSM1045318 |
PeripheralBloodMyeloid_DBA_Proband_0673_Untreated |
| GSM1045319 |
PeripheralBlood_DBA_Father_0673_Untreated |
| GSM1045320 |
PeripheralBlood_DBA_Mother_0673_Untreated |
| GSM1045321 |
PeripheralBloodLymphoid_DBA_Proband_0673_Treated |
| GSM1045322 |
PeripheralBloodMyeloid_DBA_Proband_0673_Treated |
| GSM1045323 |
PeripheralBlood_DBA_Proband_139-3_Untreated |
| GSM1045348 |
BoneMarrowLymphoid_DBA_Proband_0673_Treated |
| GSM1045349 |
BoneMarrowMyeloid_DBA_Proband_0673_Treated |
| GSM1045350 |
BoneMarrow_DBA_Proband_0673_Treated |
| GSM1049456 |
BoneMarrow_DBA_Proband_0673_Untreated expression |
| GSM1049457 |
BoneMarrow_DBA_Proband_0673_Treated expression |
| GSM1049458 |
BoneMarrow_NormalControl_Untreated expression |
|
| Relations |
| BioProject |
PRJNA182295 |
Less...
More...