The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.
Clin Immunol
; 113(2): 214-9, 2004 Nov.
Article
in En
| MEDLINE
| ID: mdl-15451479
ABSTRACT
Fanconi anemia (FA), an autosomal recessive chromosomal instability syndrome, is characterized clinically by developmental abnormalities, growth retardation, progressive bone marrow failure, pancytopenia, and pronounced cancer predisposition. Nijmegen Breakage Syndrome (NBS) is a related disorder that shares overlapping clinical features, principally, developmental delay, microcephaly, and cancer predisposition. The diagnosis has relied on chromosomal instability following exposure to DNA cross-linking agents in FA and to ionizing radiation (IR) in NBS. We describe two patients who clinically had FA, but showed sensitivity to both DNA cross-linking agents and ionizing radiation, and who were found to have a rare mutation in the NBS gene. The importance of genetic diagnosis with respect to treatment and prognosis is discussed.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Nuclear Proteins
/
Cell Cycle Proteins
/
Chromosome Breakage
/
Fanconi Anemia
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Clin Immunol
Year:
2004
Document type:
Article