Clinical analysis genealogical peculiarities in families with nijmegen breakage syndrome

Kitsera N., Polishchuk R., Akopyan H., Markevych N., Kostyuchenko L, Trojanovska O., Skoropad L.

[Free Full Text (pdf)]

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, immunodeficiency and high predisposition for malignancies, particularly B-lymphoma. Clinical and genealogical analysis has been conducted in 7 families with NBS. Eight children with NBS (5 boys and 3 girls) were observed at the age from 7 months to 11 years. All the children were homozygous carriers for mutation 657del5. Oncohematological complications developed in 5 cases (4 cases of lymphoma and one case of lymphohystiocytosis) at the age of 6–12 years. NBS in probands is often accompanied with birth defects, especially with kidney pathologies. Considerable repriductive losts in the families with NBS were noted mainly among males who died at the age less than one year (4–6 events in the families). The cases of digestive system cancers (stomach, rectum, duodenum) were revieled in the family-trees. Consanguineous couple was observed in 1 case (marriage between third cousins) and 2 children had developed NBS in this family. Genealogical analysis seems to be very informative to predict somatic and reproductive disturbances in NBS families.

Tsitologiya i Genetika 2005, vol. 39, no. 2, pp. 72-78

E-mail: natandi complex.lviv.ua

Kitsera N., Polishchuk R., Akopyan H., Markevych N., Kostyuchenko L, Trojanovska O., Skoropad L. Clinical analysis genealogical peculiarities in families with nijmegen breakage syndrome, Tsitol Genet., 2005, vol. 39, no. 2, pp. 72-78.