LIG4 syndrome (also known as Ligase IV syndrome) is an extremely rare condition caused by mutations in the DNA Ligase IV (LIG4) gene. Some mutations in this gene are associated with a resistance against multiple myeloma and Severe Combined Immunodeficiency. [1]

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

Mar 30, 2025 · LIG4 (DNA Ligase 4) is a Protein Coding gene. Diseases associated with LIG4 include Lig4 Syndrome and Myeloma, Multiple. Among its related pathways are HIV Life Cycle and Infectious disease. Gene Ontology (GO) annotations related to this gene include ligase activity and DNA ligase activity. An important paralog of this gene is LIG3.

DNA ligase IV deficiency (OMIM 606593) or LIG4 syndrome (ORPHA99812), also known as Ligase 4 syndrome, is a rare autosomal recessive disorder characterised by microcephaly, abnormal facial features, sensitivity to ionizing radiation and combined immunodeficiency.

Feb 13, 2024 · Genome sequencing identified biallelic pathogenic variations in LIG4, a DNA-repair gene responsible for the LIG4 syndrome which associates a wide range of clinical manifestations including...

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

High LIG4 expression is associated with less radiosensitivity of nasopharyngeal cancer. DNA Ligase IV is required for efficient localization of XRCC4 and XLF into cell nucleus.

DNA ligase 4 is an ATP -dependent DNA ligase that joins double-strand breaks during the non-homologous end joining pathway of double-strand break repair. It is also essential for V (D)J recombination.

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

DNA ligase IV (LIG4) deficiency (LIG4 syndrome) is a rare disorder associated with impaired response to DNA damage (1). The syndrome results from pathogenic variants in the gene encoding DNA ligase IV, an enzyme essential for nonhomologous end joining (NHEJ).