Document Detail

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.
MedLine Citation:
PMID:  10799436     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. NBS-1, the gene defective in NBS, is located on chromosome 8q21 and has recently been cloned. The gene product, nibrin, is a novel protein, which is member of the hMre11/hRad50 protein complex, suggesting that the gene is involved in DNA double strand break repair. AIMS: To study the clinical and laboratory features of NBS as well as the genotype-phenotype relation. METHODS: Fifty five patients with NBS, included in the NBS registry in Nijmegen were evaluated. The majority of the patients were of eastern European ancestry. Most of them had shown a truncating 5 bp deletion 657-661 delACAAA. Four further truncating mutations have been identified in patients with other distinct haplotypes. RESULTS AND CONCLUSIONS: Essential features found in NBS were microcephaly, usually without severe retardation, typical facial appearance, immunodeficiency, chromosomal instability, x ray hypersensitivity, and predisposition to malignancy. In 40% of the patients cancer was noted before the age of 21 years. Important additional features were skin abnormalities, particularly café au lait spots and vitiligo, and congenital malformations, particularly clinodactyly and syndactyly. Congenital malformations, immunodeficiency, radiation hypersensitivity, and cancer predisposition were comprehensible in case of dysfunctioning of DNA repair mechanisms. No specific genotype-phenotype relation could be found. Patients with the same genotype may show different phenotypes and patients with different genotypes may express the same phenotype. Specific mutations did not lead to specific clinical features.
Related Documents :
16945936 - Diverse molecular mechanisms involved in achr deficiency due to rapsyn mutations.
19152976 - Connective tissue and related disorders and preterm birth: clues to genes contributing ...
19495806 - Partial remission with cyclosporine a in a patient with nephrotic syndrome due to nphs2...
14556246 - Gtf2i hemizygosity implicated in mental retardation in williams syndrome: genotype-phen...
17001296 - A silent mutation (2939g>a, exon 6; cyp2d6*59) leading to impaired expression and funct...
11139256 - Novel mutations in the galk1 gene in patients with galactokinase deficiency.
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Archives of disease in childhood     Volume:  82     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  2000 May 
Date Detail:
Created Date:  2000-05-31     Completed Date:  2000-05-31     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  400-6     Citation Subset:  AIM; IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosome Breakage / genetics*
Chromosomes, Human, Pair 8 / genetics*
Common Variable Immunodeficiency / genetics
Congenital Abnormalities / genetics
Genetic Predisposition to Disease
Microcephaly / genetics
Mutation / genetics
Neoplasms / genetics
Radiation Tolerance / genetics

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Intestinal inflammation in cystic fibrosis.
Next Document:  Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.