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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

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • 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

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

  • 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