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.
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.
Authors: Beata Wolska-Kuśnierz; Hanna Gregorek; Krystyna Chrzanowska; Barbara Piątosa; Barbara Pietrucha; Edyta Heropolitańska-Pliszka; Małgorzata Pac; Maja Klaudel-Dreszler; Larysa Kostyuchenko; Srdjan Pasic; Laszlo Marodi; Bernd H Belohradsky; Peter Čižnár; Anna Shcherbina; Sara Sebnem Kilic; Ulrich Baumann; Markus G Seidel; Andrew R Gennery; Małgorzata Syczewska; Bożena Mikołuć; Krzysztof Kałwak; Jan Styczyński; Anna Pieczonka; Katarzyna Drabko; Anna Wakulińska; Benjamin Gathmann; Michael H Albert; Urszula Skarżyńska; Ewa Bernatowska Journal: J Clin Immunol Date: 2015-08-14 Impact factor: 8.317
Authors: E Seemanová; K Sperling; H Neitzel; R Varon; J Hadac; O Butova; E Schröck; P Seeman; M Digweed Journal: J Med Genet Date: 2005-07-20 Impact factor: 6.318
Authors: Xiangfei Liu; Uma Devi Paila; Sharon N Teraoka; Jocyndra A Wright; Xin Huang; Aaron R Quinlan; Richard A Gatti; Patrick Concannon Journal: Int J Radiat Oncol Biol Phys Date: 2017-09-21 Impact factor: 7.038