Nijmegen breakage syndrome.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The gene responsible for the development of this syndrome (NBS1) was mapped on chromosome 8q21. The product of this gene--nibrin--is a protein with 95 kDa molecular weight (p95). The same mutation in the NBS1 gene (deletion 657del5) was detected in most of the evaluated patients. In this chapter, we describe the analysis of the literature and our results on clinical and immunological features and genetic evaluation of 21 NBS patients.
Kondratenko
Irina
I
Russian Clinical Children's Hospital, Institute for Clinical Genetics, Moscow, Russia. ikondratenko@rambler.ru
Paschenko
Olga
O
Polyakov
Alexandr
A
Bologov
Andrey
A
D018797:Cell Cycle Proteins / Q000235:genetics* / Q000502:physiology*; D043171:Chromosomal Instability; D019457:Chromosome Breakage; D002898:Chromosomes, Human, Pair 8; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D049932:Nijmegen Breakage Syndrome / Q000175:diagnosis* / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology*; D012426:Russia
D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins