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LIG4 syndrome

 

Synopsis

-  immunodeficiency
-  developmental and growth delay
-  unusual facial features
-  microcephaly
-  pancytopenia
-  skin anomalies

Differential diagnosis

-  The clinical phenotype closely resembled the Nijmegen breakage syndrome, a DNA damage response disorder(MIM.251260).

Etiology

-  mutations in the LIG4 gene (MIM.601837) at 13q22-q34

References

-  O'Driscoll, M.; Cerosaletti, K. M.; Girard, P.-M.; Dai, Y.; Stumm, M.; Kysela, B.; Hirsch, B.; Gennery, A.; Palmer, S. E.; Seidel, J.; Gatti, R. A.; Varon, R.; Oettinger, M. A.; Neitzel, H.; Jeggo, P. A.; Concannon, P. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Molec Cell 8: 1175-1185, 2001. PubMed ID : #11779494#



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