Document Detail


Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.
MedLine Citation:
PMID:  11953735     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: The purpose of the study was to ascertain patients with Nijmegen breakage syndrome (NBS) in the Russian population and characterize the clinical phenotype and molecular genotype of these patients. STUDY DESIGN: Eight unrelated Russian patients with possible diagnoses of NBS were identified. Family histories were collected and clinical and laboratory analyses were carried out. Mutation screening of the NBS1 gene was carried out to confirm the diagnosis in 7 cases. RESULTS: All patients had the key diagnostic features of NBS. One patient had acute myeloblastic leukemia (AML). Two patients had bone marrow aplasia, not previously described as a feature of NBS. Mutation screening of the NBS1 gene revealed that 6 patients were homozygous for the 657del5 mutation, whereas a seventh patient was a compound heterozygote, having the 657del5 mutation and an additional novel mutation, 681delT. CONCLUSIONS: Molecular analyses confirmed the diagnosis of NBS in 7 of the patients. The surprising finding of bone marrow aplasia or AML in 3 of 7 patients raises the possibility of a connection between NBS and another DNA damage disorder, Fanconi anemia.
Authors:
Igor B Resnick; Irina Kondratenko; Oleg Togoev; Natalia Vasserman; Irena Shagina; Oleg Evgrafov; Svetlana Tverskaya; Karen M Cerosaletti; Richard A Gatti; Patrick Concannon
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  140     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  2002 Mar 
Date Detail:
Created Date:  2002-04-15     Completed Date:  2002-04-30     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  355-61     Citation Subset:  AIM; IM    
Affiliation:
Institute of Paediatric Hematology and the Institute of Clinical Genetics, Russian Federal Children's Hospital, Moscow, Russia.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Fragility*
Female
Heterozygote
Homozygote
Humans
Immunologic Deficiency Syndromes / genetics*,  immunology
Microcephaly / genetics*,  immunology
Mutation
Nuclear Proteins / genetics
Phenotype
Russia
Syndrome
Grant Support
ID/Acronym/Agency:
CA57569/CA/NCI NIH HHS; CA76513/CA/NCI NIH HHS; NS35322/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Nuclear Proteins
Comments/Corrections
Comment In:
J Pediatr. 2002 Nov;141(5):742   [PMID:  12410210 ]

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