CLINICAL AND GENEALOGICAL STUDY IN FAMILIES WITH NIJMEGEN SYNDROME

摘要

Nijmegen breakage syndrome (NBS) is an autosomal-recessive disease that is characterized by microcephaly, immunodeficiency, and elevated predisposition to malignant tumors. A clinical and genealogical study was conducted on seven families with NBS. Eight children with NBS (five boys and three girls) were studied from the age of seven months to 11 years. All the children were homozygous carriers of the 657del5 mutation. In five cases NBS at the age of 6-12 years was combined with the development of oncohematological diseases (lymphoma in four cases, lymphohistiocytosis, one case). NBS in the probands was often accompanied by birth defects, particularly nephritis. Significant reproductive losses among relatives with NBS were encountered most often among male individuals who had deceased before one year of age (four to six cases per family). Cases of malignant tumors in organs of the gastrointestinal tract were discovered in the family tree. A consanguinous union was observed in only one case from which there issued two children with NBS. The clinical and genealogical analysis represents an informative method for predicting somatic and reproductive disturbances in families with NBS.