EDITORNijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder, characterised by microcephaly, bird-like face, growth retardation, immunodeficiency, cytogenetic abnormalities, increased radiosensitivity, and high susceptibility to lymphoid malignancy. The NBS1 gene, mapped on chromosome 8q21¹ and recently cloned,^2 3 codes for nibrin, a member of the hMre11/hRAD50 protein complex, involved in DNA double strand break repair. The NBS Registry in Nijmegen includes 55 patients. The majority of them are of eastern European origin and share a common haplotype, suggesting a founder effect, and a mutation consisting of a truncating 5 bp deletion in exon 6, 657-661 del ACAAA.⁴ Five further mutations have been found in six patients with different haplotypes and of various ethnic origins.

We found a new mutation of the NBS1 gene in a 2 year old girl from Morocco. The patient, a girl born at term in August 1997 (fig 1), is the third child of apparently non-consanguineous parents; the . . . [Full text of this article]