The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11
- Hiroshima Univ. (Japan); and others
Ataxia telanglectasia (AT) is an autosomal recessive disorder characterized by oculocutaneous telangiectasia and cerebellar ataxia. Individuals with this disorder display immunological impairments, hypersensitivity to ionizing radiation, and a predisposition to cancer. There has been reported genetic heterogeneity in AT, which appeared to include four genetic complementation groups in classical AT - i.e., A, B/C, D, E - and two variants, so-called Nijmegen breakage syndrome (NBS), V1 and V2. Among the four groups of classical AT, no significant differences in clinical appearance have been seen. Familial linkage analyses have produced evidence that genes for all four complementation groups in classical AT reside in a narrow region on chromosome 11q22-23. On the other hand, NBS patients have neither cerebellar ataxia nor telanglectasia but do display microcephaly and a developmental delay. However, patients share features with AT, such as high radiosensitivity, radioresistant DNA synthesis (RDS), and chromosome instability, suggesting that the same pathway (or part thereof) is impaired in both syndromes. The underlying gene for NBS has not yet been identified, and its location in the human genome is still unknown. 15 refs., 3 figs.
- OSTI ID:
- 285070
- Journal Information:
- American Journal of Human Genetics, Vol. 58, Issue 4; Other Information: PBD: Apr 1996
- Country of Publication:
- United States
- Language:
- English
Similar Records
Further delineation of the Nijmegen breakage syndrome
The gene for the ataxia-telagiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
Related Subjects
BASIC STUDIES
56 BIOLOGY AND MEDICINE
APPLIED STUDIES
HUMAN CHROMOSOMES
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
GENETIC RADIATION EFFECTS
GENES
DNA-CLONING
PATIENTS
HEREDITARY DISEASES
NERVOUS SYSTEM DISEASES
PHENOTYPE
IMMUNE SYSTEM DISEASES
RADIOSENSITIVITY
RECESSIVE MUTATIONS
STATISTICS
SURVIVAL CURVES
DNA HYBRIDIZATION
X RADIATION