Myeloid dysplasia in familial 3-methylglutaconic aciduria

Journal of Pediatric Hematology/Oncology

Volumn 28, Issue 2, 2006, Pages 69-72

  Haimi, Motti ^a   Elhasid, Ronit ^a   Gershoni Baruch, Ruth ^a   Izraeli, Shai ^b   Wanders, Ronald J A ^c   Mandel, Hanna ^a  

^a MEYER CHILDREN S HOSPITAL   (Israel)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

3 methylglutaconic aciduria; Acute myeloid leukemia; Monosomy 7; Myelodysplastic syndrome

Indexed keywords

3 METHYLGLUTACONIC ACID;

ACIDURIA; ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; BLOOD DISEASE; BONE MARROW; CASE REPORT; CHILD; CHROMOSOME DISORDER; DEGENERATIVE DISEASE; FAMILIAL DISEASE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MALE; MONOSOMY 7; MYELODYSPLASTIC SYNDROME; PRIORITY JOURNAL; THROMBOCYTOPENIA;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; CONSANGUINITY; ETHNIC GROUPS; FEMALE; GLUTARATES; HUMANS; INFANT; ISRAEL; LEUKEMIA, MYELOCYTIC, ACUTE; MALE; MENTAL RETARDATION; METABOLISM, INBORN ERRORS; MONOSOMY; MYELODYSPLASTIC SYNDROMES; PEDIGREE; THROMBOCYTOPENIA;

EID: 33644614704     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mph.0000199585.98926.55     Document Type: Article

References (22)

1. Gunay-Aygun M. 3-methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. Mol Genet Metab. 2005;84:1-3.
2. Gibson KM, Elpeleg ON, Jacobs C, et al. Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol. 1993;9:120-123.
3. Ly TB, Peters V, Gibson KM, et al. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003;21:401-407.
4. Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet. 2004;126A:349-354.
5. Anikster Y, Kleta R, Shaag A, et al. Type II 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001;69:1218-1224.
6. Crisan D. Molecular mechanisms in myelodysplastic syndromes and implications for evolution to acute leukemias. Clin Lab Med. 2000;20:49-69.
7. McKenna RW. Myelodysplasia and myeloproliferative disorders in children. Am J Clin Pathol. 2004;122(Suppl):S58-S69.
8. Luna-Fineman S, Shannon K, Lange B, et al. Myelodysplastic and myeloproliferative disorders of childhood: a study of 167 patients. Blood. 1999;93:459-466.
9. Maserati E, Minelli A, Menna G, et al. Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects. Cancer Genet Cytogenet. 2004;148:155-158.
10. Groupe Francais de Cytogenetique Hematologique. Forty-four cases of childhood myelodysplasia with cytogenetics, documented by the Group Francais de Cytogenetique Hematologique. Leukemia. 1997;11:1478-1485.
11. Roumier C, Fenaux P, Lafage M, et al. New mechanisms of AML1 gene alteration in hematological malignancies. Leukemia. 2003;17:9-16.
12. Hasle H, Arico M, Basso G, et al. European working group on MDS in childhood (EWOG-MDS). Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7. Leukemia. 1999;13:376-385.
13. Minelli A, Maserati E, Giudici G, et al. Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene. Cancer Genet Cytogenet. 2001;124:147-151.
14. Pearson HA, Lobel JS, Codoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. 1979;95:976-984.
15. Lichter-Konecki U, Trefz FK, Rotig A, et al. 3-methylglutaconic aciduria in a patient with Pearson syndrome. Eur J Pediatr. 1993;152:378.
16. Gibson KM, Bennett MJ, Mize CE, et al. 3-methylgutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr. 1992;121:940-942.
17. Gattermann N. From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes. Leuk Res. 2000;24:141-151.
18. Linnartz B, Anglmayer R, Zanssen S. Comprehensive scanning of somatic mitochondrial DNA alterations in acute leukemia developing from myelodysplastic syndromes. Cancer Res. 2004;64:1966-1971.
19. Shin MG, Kajigaya S, Levin BC, et al. Mitochondrial DNA mutations in patients with myelodysplastic syndromes. Blood. 2003;101:3118-3125.
20. Reddy PL, Shetty VT, Dutt D, et al. Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes. Br J Haematol. 2002;116:564-575.
21. Eng C, Kiuru M, Fernandez MJ, et al. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer. 2003;3:193-202.
22. Bykhovskaya Y, Casas K, Mengesha E, et al. Missense mutations in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet. 2004;74:1303-1308.