Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene

Hematology Journal

Volumn 4, Issue 2, 2003, Pages 132-136

  Proust, Alexis ^a   Da Costa, Lydie ^a   Rince, Patricia ^a   Landois, Anaely ^a   Tamary, Hannah ^b   Zaizov, Rina ^b   Tchernia, Gil ^a,c   Delaunay, Jean ^a,c   Berger, C ^d   Blanche, S ^e   Debre M ^e   de Montalembert, M ^e   Bonardi, J M ^f   Bordigoni, P ^g   Genot, J Y ^f   Lecomte, D ^f   Le Moine, P ^h   Lutz, P ⁱ   Rachieru, P ^j  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b TEL AVIV UNIVERSITY   (Israel)

^c INSERM   (France)

^d Hopital Nord   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f CENTRE HOSPITALIER   (France)

^g UNIVERSITY HOSPITAL OF NANCY   (France)

^h CHU MORVAN   (France)

ⁱ HÔPITAL DE HAUTEPIERRE   (France)

^j ANGERS UNIVERSITY HOSPITAL   (France)

more..

Author keywords

Diamond Blackfan anemia; Mutations; Neutral polymorphism; rps19 gene

Indexed keywords

CYTOSINE; GUANINE; RIBOSOME PROTEIN; RPS19 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BLACKFAN DIAMOND ANEMIA; CONTROLLED STUDY; EXON; FAMILY; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; INHERITANCE; INTRON; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION;

ANEMIA, DIAMOND-BLACKFAN; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; RIBOSOMAL PROTEINS;

EID: 0038677903     PISSN: 14664860     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.thj.6200230     Document Type: Article

References (8)

1. Gustavsson P, Willig TN, van Haeringen A, Tchernia G, Dianzani I, Donner M et al. Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. Nat Genet 1997; 16: 368-371.
2. Gustavsson P, Garelli E, Draptchinskaia N, Ball S, Willig TN, Tentler D et al. Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. Am J Hum Genet 1998; 63: 1388-1395.
3. Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 1999; 94: 169-175.
4. Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U et al. Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. Blood 1999; 94: 4294-4306.
5. Willig TN, Niemeyer CM, Leblanc T, Tiemann C, Robert A, Budde J et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d'Hematologie et d'Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res 1999; 46: 553-561.
6. Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G et al. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p2.33-p22 and for non-19q non-8p disease. Blood 2001; 97: 2145-2150.
7. Gazda H, Zhong R, Sieff CA. Identification of ribosomal protein and other candidate genes in Diamond-Blackfan anemia on chromosome 8p and analysis of their expression. Blood 2001; 98(Suppl 1): 216a.
8. Gustavsson P, Klar J, Matsson H, Forestier E, Henter JI, Rao S et al. 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. Br J Haematol 2002; 119: 261-264.