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LIG4 SYNDROME
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LIG4 syndrome is caused by mutations in the LIG4 gene.
O'Driscoll identified 4 patients with features including immunodeficiency and developmental and growth delay who had mutations in the LIG4 gene. The clinical phenotype, which they called LIG4 syndrome, closely resembled the DNA damage response disorder, Nijmegen breakage syndrome. All 4 patients displayed unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities. Cell lines from the patients showed pronounced radiosensitivity. Unlike NBS cell lines, they showed normal cell cycle checkpoint responses but impaired DNA double-strand break rejoining. An unexpected V(D)J recombination phenotype was observed involving a small decrease in rejoining frequency coupled with elevated imprecision at signal junctions. |
DNA repair proteins related with LIG4 SYNDROME (#606593 ) disease:
Following keywords are related to LIG4 SYNDROME:
Last modification of this entry: Oct. 11, 2010.
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