Diamond-Blackfan anemia historical perspective: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
Diamond and [[Kenneth Blackfan|Blackfan]] described congenital [[hypoplastic]] anemia in 1938.<ref>{{cite journal | author=Diamond LK, Blackfan, KD | title=Hypoplastic anemia. | journal=Am. J. Dis. Child. | year=1938 | pages=464-467 | volume=56 }} </ref> | Diamond and [[Kenneth Blackfan|Blackfan]] described congenital [[hypoplastic]] anemia in 1938.<ref>{{cite journal | author=Diamond LK, Blackfan, KD | title=Hypoplastic anemia. | journal=Am. J. Dis. Child. | year=1938 | pages=464-467 | volume=56 }} </ref> In 1951, responsiveness to corticosteroids was reported. In 1961, Diamond and colleagues presented [[longitudinal]] data on 30 patients and noted an association with skeletal abnormalities. <ref>{{cite journal | author=Diamond LK, Allen DW, Magill FB | title= Congenital (erythroid) hypoplastic anemia: a 25 year study. | journal=Am. J. Dis. Child. | year=1961 | pages=403-415 | volume=102 | id=PMID 13722603}} | ||
</ref> In 1997 a region on chromosome 19 was determined to carry a gene mutated in DBA. <ref>{{cite journal | author= Gustavsson P, Willing TN, van Haeringen A, Tchernia G, Dianzani I, Donner M, Elinder G, Henter JI, Nilsson PG, Gordon L, Skeppner G, van't Veer-Korthof L, Kreuger A, Dahl N | title= Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. | journal=Nat. Genet. | year=1997 | pages=368-71 | volume=16 | issue=4 | id=PMID 9241274}}</ref><ref>{{cite journal | author= Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N | title= Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation. | journal=J. Med. Genet. | year=1997 | pages=779-82 | volume=34 | issue=9 | id=PMID 9321770}}</ref> In 1999, mutations in the [[Ribosome|ribosomal]] protein S19 gene (RPS19) were found to be associated with disease in 42 of 172 DBA patients.<ref>{{cite journal | author= Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N | title= The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. | journal=Nat. Genet. | year=1999 | pages=168-75 | volume=21 | issue=2 | id=PMID 9988267}}</ref> In 2001, it was determined that a second DBA gene lies in a region of chromosome 8 although evidence for further genetic heterogeneity was uncovered.<ref>{{cite journal | author=Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA | title= Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. | journal=Blood | year=2001 | pages=2145-50 | volume=97 | issue=7 | id=PMID 11264183}}</ref>In 2010, 10 additional DBA genes are identified.Non-RP gene, GATA1, was identified in 2012.<ref name="pmid24952648">{{cite journal |vauthors=Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG |title=Altered translation of GATA1 in Diamond-Blackfan anemia |journal=Nat. Med. |volume=20 |issue=7 |pages=748–53 |date=July 2014 |pmid=24952648 |pmc=4087046 |doi=10.1038/nm.3557 |url=}}</ref>.These known ribosomal protein genes represent only about a third of the genes involved in forming ribosomes, and despite of finding mutations in GATA1 and a handful of other genes, 20 percent of patients still have no known genetic cause. | </ref> In 1997 a region on chromosome 19 was determined to carry a gene mutated in DBA. <ref>{{cite journal | author= Gustavsson P, Willing TN, van Haeringen A, Tchernia G, Dianzani I, Donner M, Elinder G, Henter JI, Nilsson PG, Gordon L, Skeppner G, van't Veer-Korthof L, Kreuger A, Dahl N | title= Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. | journal=Nat. Genet. | year=1997 | pages=368-71 | volume=16 | issue=4 | id=PMID 9241274}}</ref><ref>{{cite journal | author= Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N | title= Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation. | journal=J. Med. Genet. | year=1997 | pages=779-82 | volume=34 | issue=9 | id=PMID 9321770}}</ref> In 1999, mutations in the [[Ribosome|ribosomal]] protein S19 gene (RPS19) were found to be associated with disease in 42 of 172 DBA patients.<ref>{{cite journal | author= Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N | title= The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. | journal=Nat. Genet. | year=1999 | pages=168-75 | volume=21 | issue=2 | id=PMID 9988267}}</ref> In 2001, it was determined that a second DBA gene lies in a region of chromosome 8 although evidence for further genetic heterogeneity was uncovered.<ref>{{cite journal | author=Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA | title= Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. | journal=Blood | year=2001 | pages=2145-50 | volume=97 | issue=7 | id=PMID 11264183}}</ref>In 2010, 10 additional DBA genes are identified.Non-RP gene, GATA1, was identified in 2012.<ref name="pmid24952648">{{cite journal |vauthors=Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG |title=Altered translation of GATA1 in Diamond-Blackfan anemia |journal=Nat. Med. |volume=20 |issue=7 |pages=748–53 |date=July 2014 |pmid=24952648 |pmc=4087046 |doi=10.1038/nm.3557 |url=}}</ref>.These known ribosomal protein genes represent only about a third of the genes involved in forming ribosomes, and despite of finding mutations in GATA1 and a handful of other genes, 20 percent of patients still have no known genetic cause. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
Diamond and Blackfan described congenital hypoplastic anemia in 1938.[1] In 1951, responsiveness to corticosteroids was reported. In 1961, Diamond and colleagues presented longitudinal data on 30 patients and noted an association with skeletal abnormalities. [2] In 1997 a region on chromosome 19 was determined to carry a gene mutated in DBA. [3][4] In 1999, mutations in the ribosomal protein S19 gene (RPS19) were found to be associated with disease in 42 of 172 DBA patients.[5] In 2001, it was determined that a second DBA gene lies in a region of chromosome 8 although evidence for further genetic heterogeneity was uncovered.[6]In 2010, 10 additional DBA genes are identified.Non-RP gene, GATA1, was identified in 2012.[7].These known ribosomal protein genes represent only about a third of the genes involved in forming ribosomes, and despite of finding mutations in GATA1 and a handful of other genes, 20 percent of patients still have no known genetic cause.
References
- ↑ Diamond LK, Blackfan, KD (1938). "Hypoplastic anemia". Am. J. Dis. Child. 56: 464–467.
- ↑ Diamond LK, Allen DW, Magill FB (1961). "Congenital (erythroid) hypoplastic anemia: a 25 year study". Am. J. Dis. Child. 102: 403–415. PMID 13722603.
- ↑ Gustavsson P, Willing TN, van Haeringen A, Tchernia G, Dianzani I, Donner M, Elinder G, Henter JI, Nilsson PG, Gordon L, Skeppner G, van't Veer-Korthof L, Kreuger A, Dahl N (1997). "Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb". Nat. Genet. 16 (4): 368–71. PMID 9241274.
- ↑ Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N (1997). "Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation". J. Med. Genet. 34 (9): 779–82. PMID 9321770.
- ↑ Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N (1999). "The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia". Nat. Genet. 21 (2): 168–75. PMID 9988267.
- ↑ Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA (2001). "Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease". Blood. 97 (7): 2145–50. PMID 11264183.
- ↑ Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG (July 2014). "Altered translation of GATA1 in Diamond-Blackfan anemia". Nat. Med. 20 (7): 748–53. doi:10.1038/nm.3557. PMC 4087046. PMID 24952648.