Display Settings:

Format

Send to:

Choose Destination
J Pediatr. 2002 Mar;140(3):355-61.

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.

Author information

  • 1Institute of Paediatric Hematology and the Institute of Clinical Genetics, Russian Federal Children's Hospital, Moscow, Russia.

Abstract

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.

Comment in

PMID:
11953735
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk