Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene

DNA ligases are required for the replication, repair, and recombination of DNA. A cell line derived from a young woman with growth retardation, sun sensitivity, and immunodeficiencies, who died aged 19 with lymphoma, showed two different miscoding mutations at the DNA ligase I locus on chromosome 19, one in each allele. One of the mutations was inherited from the mother and has also been detected in two healthy brothers. The patient had features similar to those of Bloom's syndrome (BS), but cell lines from BS patients do not have mutations in the DNA ligase I gene. This patient seems to represent a distinct genetic entity.