LIG4 syndrome
LIG4 syndrome is a rare autosomal recessive genetic disorder characterized by hypersensitivity to ionizing radiation and a propensity to develop malignancies. The syndrome is caused by mutations in the LIG4 gene, which is involved in the repair of DNA double-strand breaks.
Symptoms and Signs[edit | edit source]
Patients with LIG4 syndrome typically present with a variety of clinical manifestations, including microcephaly, unusual facial features, growth retardation, and immunodeficiency. They may also have a higher risk of developing leukemia and lymphoma.
Genetics[edit | edit source]
LIG4 syndrome is caused by mutations in the LIG4 gene, which encodes a DNA ligase that is essential for the repair of DNA double-strand breaks. These breaks can occur spontaneously during DNA replication or can be induced by ionizing radiation or certain chemicals. The LIG4 protein is involved in the non-homologous end joining (NHEJ) pathway, which is one of the major pathways for repairing these breaks.
Diagnosis[edit | edit source]
The diagnosis of LIG4 syndrome is based on clinical features, laboratory findings, and the identification of a pathogenic mutation in the LIG4 gene. Laboratory findings may include lymphopenia, anemia, and increased levels of gamma globulin.
Treatment[edit | edit source]
There is currently no cure for LIG4 syndrome. Treatment is supportive and may include regular monitoring for malignancies, immunoglobulin replacement therapy for immunodeficiency, and avoidance of ionizing radiation.
See Also[edit | edit source]
References[edit | edit source]
- O'Driscoll M, Cerosaletti KM, Girard PM, et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Molecular Cell. 2001;8(6):1175-1185.
- Buck D, Malivert L, de Chasseval R, et al. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell. 2006;124(2):287-299.
NIH genetic and rare disease info[edit source]
LIG4 syndrome is a rare disease.
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