Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F20%3A73602370" target="_blank" >RIV/61989592:15110/20:73602370 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/20:00115428 RIV/65269705:_____/20:00072744 RIV/00098892:_____/20:N0000043 RIV/00064203:_____/20:10410853 RIV/00023736:_____/20:00012987
Result on the web
<a href="https://www.sciencedirect.com/science/article/pii/S1079979619302785" target="_blank" >https://www.sciencedirect.com/science/article/pii/S1079979619302785</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.bcmd.2019.102380" target="_blank" >10.1016/j.bcmd.2019.102380</a>
Alternative languages
Result language
angličtina
Original language name
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
Original language description
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia, underlied by haploinsufficient mutations in genes coding for ribosomal proteins (RP) in approximately 70% of cases. DBA is frequently associated with somatic malformations, endocrine dysfunction and with an increased predisposition to cancer. Here we present clinical and genetic characteristics of 62 patients from 52 families enrolled in the Czech and Slovak DBA Registry. Whole exome sequencing (WES) and array comparative genomic hybridization (aCGH) were employed to identify causative mutations in newly diagnosed patients and in cases with previously unrecognized molecular pathology. RP mutation detection rate was 81% (50/62 patients). This included 8 novel point mutations and 4 large deletions encompassing some of the RP genes. Malignant or predisposing condition developed in 8/62 patients (13%): myelodysplastic syndrome in 3 patients; breast cancer in 2 patients; colorectal cancer plus ocular tumor, diffuse large B-cell lymphoma and multiple myeloma each in one case. These patients exclusively harbored RPL5, RPL11 or RPS19 mutations. Array CGH is beneficial for detection of novel mutations in DBA due to its capacity to detect larger chromosomal aberrations. Despite the importance of genotype-phenotype correlation in DBA, phenotypic differences among family members harboring an identical mutation were observed.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
<a href="/en/project/NV16-32105A" target="_blank" >NV16-32105A: Diamond-Blackfan anemia as a congenital ribosomopathy: molecular, cellular and clinical aspects</a><br>
Continuities
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Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Blood Cells, Molecules, and Diseases
ISSN
1079-9796
e-ISSN
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Volume of the periodical
81
Issue of the periodical within the volume
3
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
1-11
UT code for WoS article
000510852000001
EID of the result in the Scopus database
2-s2.0-85076374509