The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

American Journal of Human Genetics

Volumn 60, Issue 3, 1997, Pages 605-610

  Saar, Kathrin ^a,b   Chrzanowska, Krystyna H ^c   Stumm, Markus ^a,e   Jung, Martin ^b   Nürnberg, Gudrun ^b   Wienker, Thomas F ^b   Seemanová, Eva ^d   Wegner, Rolf Dieter ^a   Reis, André ^a,b   Sperling, Karl ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d CHARLES UNIVERSITY   (Czech Republic)

^e OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELISM; ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8Q; CLINICAL ARTICLE; DISEASE CLASSIFICATION; FEMALE; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; RADIATION INJURY; SYNDROME;

ALLELES; ATAXIA TELANGIECTASIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HUMANS; MALE; PEDIGREE;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 16944366639     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Bourne Y, Watson MH, Hickey MJ, Holmes W, Rocque W, Reed SI, Tainer JA (1996) Crystal structure and mutational analysis of the human CDK2 kinase complex with cell cycle-regulatory protein CksHs1. Cell 84:863-874
2. Bray-Ward P, Menninger J, Lieman J, Desai T, Mokady N, Banks A, Ward DC (1996) Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones. Genomics 32:1-14
3. Chen P, Imray P, Kidson C (1984) Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations. Mutat Res 129:165-172
4. Chen P, Kidson C (1993) Complementation analysis in ataxia telangiectasia: fibroblast-lymphoblastoid cell heterokaryon assay by radiation-induced chromosome aberrations. Cytogenet Cell Genet 64:9-11
5. Chrzanowska KH, Kleijer WJ, Krajewska Walasek M, Bialecka M, Gutkowska A, Goryluk Kozakiewicz B, Michalkiewicz J, et al (1995) Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am J Med Genet 57:462-471
6. Demetrick DJ, Zhang H, Beach DH (1996) Chromosomal mapping of the human genes CKS1 to 8q21 and CKS2 to 9q22. Cytogenet Cell Genet 73:250-254
7. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
8. Hudson TJ, Stein LD, Gerety SS, Ma J, Castle AB, Silva J, Slonim DK, et al (1995) An STS-based map of the human genome. Science 270:1945-1954
9. Jaspers NGJ, Bootsma D (1982) Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion. Proc Natl Acad Sci USA 79:2641-2644
10. Jaspers NG, Gatti RA, Baan C, Linssen PC, Bootsma D (1988a) Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet 49:259-263
11. Jaspers NGJ, Taalman RDFM, Baan C (1988b) Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia. Am J Hum Genet 42:66-73
12. Komatsu K, Matsuura S, Tauchi H, Endo S, Kodama S, Smeets D, Weemaes C, et al (1996) The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11. Am J Hum Genet 58:885-888
13. Savitsky K, Bar Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, et al (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749-1753
14. Seemanová E (1990) An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mutat Res 238:321-324
15. Seemanová E, Passarge E, Beneskova D, Houstek J, Kasal P, Sevcikova M (1985) Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet 20:639-648
16. Stumm M, Gatti RA, Reis A, Udar N, Chrzanowska K, Seemanová E, Sperling K, et al (1995) The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1. Am J Hum Genet 57: 960-962
17. Taalman RD, Hustinx TW, Weemaes CM, Seemanová E, Schmidt A, Passarge E, Scheres JM (1989) Further delineation of the Nijmegen breakage syndrome. Am J Med Genet 32:425-431
18. Terwilliger JD, Ott J (1992) A haplotype-based haplotype relative risk statistic. Hum Hered 42:337-346
19. van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C (1996) Nijmegen breakage syndrome. J Med Genet 33:153-156
20. Wegner RD, Metzger M, Hanefeld F, Jaspers NG, Baan C, Magdorf K, Kunze J, et al (1988) A new chromosomal instability disorder confirmed by complementation studies. Clin Genet 33:20-32
21. Wegner RD, Reis A, Digweed M (1994) Cytogenetic and molecular investigations in chromosomal instability syndromes. In: Obe G, Natarajan AT (eds) Chromosomal alterations: origin and significance. Springer, New York, Berlin, Heidelberg, London, Paris, Tokyo, pp 269-281