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Niklas Dahl - One of the best experts on this subject based on the ideXlab platform.

  • Clinical utility gene card for: Diamond Blackfan anemia
    European Journal of Human Genetics, 2011
    Co-Authors: Adrianna Vlachos, Irma Dianzani, Niklas Dahl, Jeffrey M. Lipton
    Abstract:

    European Journal of Human Genetics advance online publication, 19 January 2011; doi:10.1038/ejhg.2010.2471. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Diamond Blackfan anemia, DBA1, 3–10 (DBA2 not confirmed), AaseSmith syndrome, congenital hypoplastic anemia, Blackfan Diamondanemia and inherited Erythroblastopenia.1.2 OMIM# of the disease105650, 610629, 612527, 612528, 612561,612562, 612563, 613308 and613309.1.3 Name of the analysed genes or DNA/chromosome segmentsRPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10 andRPS26.1.4 OMIM# of the gene(s)603474, 602412, 180472, 180468, 603634, 604175, 603658, 603632 and603701.1.5 Mutational spectrumIn patients for whom there is a known mutation (50–60%), DiamondBlackfan anemia results from a ribosomal protein haploinsufficiency.

  • Clinical utility gene card for: Diamond Blackfan anemia
    European Journal of Human Genetics, 2011
    Co-Authors: Adrianna Vlachos, Irma Dianzani, Niklas Dahl, Jeffrey M. Lipton
    Abstract:

    European Journal of Human Genetics advance online publication, 19 January 2011; doi:10.1038/ejhg.2010.2471. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Diamond Blackfan anemia, DBA1, 3–10 (DBA2 not confirmed), AaseSmith syndrome, congenital hypoplastic anemia, Blackfan Diamondanemia and inherited Erythroblastopenia.1.2 OMIM# of the disease105650, 610629, 612527, 612528, 612561,612562, 612563, 613308 and613309.1.3 Name of the analysed genes or DNA/chromosome segmentsRPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10 andRPS26.1.4 OMIM# of the gene(s)603474, 602412, 180472, 180468, 603634, 604175, 603658, 603632 and603701.1.5 Mutational spectrumIn patients for whom there is a known mutation (50–60%), DiamondBlackfan anemia results from a ribosomal protein haploinsufficiency.

  • familial transient Erythroblastopenia of childhood is associated with the chromosome 19q13 2 region but not caused by mutations in coding sequences of the ribosomal protein s19 rps19 gene
    British Journal of Haematology, 2002
    Co-Authors: Peter Gustavsson, Joakim Klar, Hans Matsson, Erik Forestier, Janinge Henter, Sreedhar P Rao, Martin Seip, Gunnar Skeppner, Niklas Dahl
    Abstract:

    Summary.  Transient Erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond–Blackfan anaemia (DBA). We have previously shown that mutations in the ribosomal protein S19 gene (RPS19) cause DBA. In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. Linkage analysis supported allelism for TEC and DBA at the RPS19 gene locus and implies molecular mechanisms other than structural mutations in the RPS19 gene.

  • familial transient Erythroblastopenia of childhood is associated with the chromosome
    British Journal of Haematology, 2002
    Co-Authors: Peter Gustavsson, Joakim Klar, Hans Matsson, Erik Forestier, Janinge Henter, Sreedhar P Rao, Martin Seip, Gunnar Skeppner, Niklas Dahl
    Abstract:

    Transient Erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond-Blackfan anaemia (DBA). We have previously shown that mutations in t ...

Hans Matsson - One of the best experts on this subject based on the ideXlab platform.

  • familial transient Erythroblastopenia of childhood is associated with the chromosome 19q13 2 region but not caused by mutations in coding sequences of the ribosomal protein s19 rps19 gene
    British Journal of Haematology, 2002
    Co-Authors: Peter Gustavsson, Joakim Klar, Hans Matsson, Erik Forestier, Janinge Henter, Sreedhar P Rao, Martin Seip, Gunnar Skeppner, Niklas Dahl
    Abstract:

    Summary.  Transient Erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond–Blackfan anaemia (DBA). We have previously shown that mutations in the ribosomal protein S19 gene (RPS19) cause DBA. In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. Linkage analysis supported allelism for TEC and DBA at the RPS19 gene locus and implies molecular mechanisms other than structural mutations in the RPS19 gene.

  • familial transient Erythroblastopenia of childhood is associated with the chromosome
    British Journal of Haematology, 2002
    Co-Authors: Peter Gustavsson, Joakim Klar, Hans Matsson, Erik Forestier, Janinge Henter, Sreedhar P Rao, Martin Seip, Gunnar Skeppner, Niklas Dahl
    Abstract:

    Transient Erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond-Blackfan anaemia (DBA). We have previously shown that mutations in t ...

  • The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
    Nature Genetics, 1999
    Co-Authors: Natalia Draptchinskaia, Irma Dianzani, Peter Gustavsson, Joakim Klar, Björn Andersson, Monica Pettersson, Thiébaut-noël Willig, Sarah Ball, Gil Tchernia, Hans Matsson
    Abstract:

    Diamond–Blackfan anaemia (DBA) is a constitutional Erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.

Peter Gustavsson - One of the best experts on this subject based on the ideXlab platform.

  • familial transient Erythroblastopenia of childhood is associated with the chromosome 19q13 2 region but not caused by mutations in coding sequences of the ribosomal protein s19 rps19 gene
    British Journal of Haematology, 2002
    Co-Authors: Peter Gustavsson, Joakim Klar, Hans Matsson, Erik Forestier, Janinge Henter, Sreedhar P Rao, Martin Seip, Gunnar Skeppner, Niklas Dahl
    Abstract:

    Summary.  Transient Erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond–Blackfan anaemia (DBA). We have previously shown that mutations in the ribosomal protein S19 gene (RPS19) cause DBA. In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. Linkage analysis supported allelism for TEC and DBA at the RPS19 gene locus and implies molecular mechanisms other than structural mutations in the RPS19 gene.

  • familial transient Erythroblastopenia of childhood is associated with the chromosome
    British Journal of Haematology, 2002
    Co-Authors: Peter Gustavsson, Joakim Klar, Hans Matsson, Erik Forestier, Janinge Henter, Sreedhar P Rao, Martin Seip, Gunnar Skeppner, Niklas Dahl
    Abstract:

    Transient Erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond-Blackfan anaemia (DBA). We have previously shown that mutations in t ...

  • The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
    Nature Genetics, 1999
    Co-Authors: Natalia Draptchinskaia, Irma Dianzani, Peter Gustavsson, Joakim Klar, Björn Andersson, Monica Pettersson, Thiébaut-noël Willig, Sarah Ball, Gil Tchernia, Hans Matsson
    Abstract:

    Diamond–Blackfan anaemia (DBA) is a constitutional Erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.

Joakim Klar - One of the best experts on this subject based on the ideXlab platform.

  • familial transient Erythroblastopenia of childhood is associated with the chromosome 19q13 2 region but not caused by mutations in coding sequences of the ribosomal protein s19 rps19 gene
    British Journal of Haematology, 2002
    Co-Authors: Peter Gustavsson, Joakim Klar, Hans Matsson, Erik Forestier, Janinge Henter, Sreedhar P Rao, Martin Seip, Gunnar Skeppner, Niklas Dahl
    Abstract:

    Summary.  Transient Erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond–Blackfan anaemia (DBA). We have previously shown that mutations in the ribosomal protein S19 gene (RPS19) cause DBA. In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. Linkage analysis supported allelism for TEC and DBA at the RPS19 gene locus and implies molecular mechanisms other than structural mutations in the RPS19 gene.

  • familial transient Erythroblastopenia of childhood is associated with the chromosome
    British Journal of Haematology, 2002
    Co-Authors: Peter Gustavsson, Joakim Klar, Hans Matsson, Erik Forestier, Janinge Henter, Sreedhar P Rao, Martin Seip, Gunnar Skeppner, Niklas Dahl
    Abstract:

    Transient Erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond-Blackfan anaemia (DBA). We have previously shown that mutations in t ...

  • The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
    Nature Genetics, 1999
    Co-Authors: Natalia Draptchinskaia, Irma Dianzani, Peter Gustavsson, Joakim Klar, Björn Andersson, Monica Pettersson, Thiébaut-noël Willig, Sarah Ball, Gil Tchernia, Hans Matsson
    Abstract:

    Diamond–Blackfan anaemia (DBA) is a constitutional Erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.

Jeffrey M. Lipton - One of the best experts on this subject based on the ideXlab platform.

  • Clinical utility gene card for: Diamond Blackfan anemia
    European Journal of Human Genetics, 2011
    Co-Authors: Adrianna Vlachos, Irma Dianzani, Niklas Dahl, Jeffrey M. Lipton
    Abstract:

    European Journal of Human Genetics advance online publication, 19 January 2011; doi:10.1038/ejhg.2010.2471. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Diamond Blackfan anemia, DBA1, 3–10 (DBA2 not confirmed), AaseSmith syndrome, congenital hypoplastic anemia, Blackfan Diamondanemia and inherited Erythroblastopenia.1.2 OMIM# of the disease105650, 610629, 612527, 612528, 612561,612562, 612563, 613308 and613309.1.3 Name of the analysed genes or DNA/chromosome segmentsRPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10 andRPS26.1.4 OMIM# of the gene(s)603474, 602412, 180472, 180468, 603634, 604175, 603658, 603632 and603701.1.5 Mutational spectrumIn patients for whom there is a known mutation (50–60%), DiamondBlackfan anemia results from a ribosomal protein haploinsufficiency.

  • Clinical utility gene card for: Diamond Blackfan anemia
    European Journal of Human Genetics, 2011
    Co-Authors: Adrianna Vlachos, Irma Dianzani, Niklas Dahl, Jeffrey M. Lipton
    Abstract:

    European Journal of Human Genetics advance online publication, 19 January 2011; doi:10.1038/ejhg.2010.2471. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Diamond Blackfan anemia, DBA1, 3–10 (DBA2 not confirmed), AaseSmith syndrome, congenital hypoplastic anemia, Blackfan Diamondanemia and inherited Erythroblastopenia.1.2 OMIM# of the disease105650, 610629, 612527, 612528, 612561,612562, 612563, 613308 and613309.1.3 Name of the analysed genes or DNA/chromosome segmentsRPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPS10 andRPS26.1.4 OMIM# of the gene(s)603474, 602412, 180472, 180468, 603634, 604175, 603658, 603632 and603701.1.5 Mutational spectrumIn patients for whom there is a known mutation (50–60%), DiamondBlackfan anemia results from a ribosomal protein haploinsufficiency.

  • Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia
    American journal of human genetics, 2006
    Co-Authors: Hanna T. Gazda, Adrianna Vlachos, Jeffrey M. Lipton, Sarah E. Ball, Eva Atsidaftos, Agnieszka Grabowska, Lilia B. Merida-long, Elzbieta Latawiec, Hal E. Schneider, Karen A. Orfali
    Abstract:

    Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow Erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.