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GENATLAS PHENOTYPE
last update : 15-04-2014
Symbol LIG4S
Location 13q33.3
Name LIG4 syndrome
Corresponding gene LIG4
Main clinical features
  • characterized by developmental and growth delay and immunodeficiency , facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities, pronounced radiosensitivity, with features ressembling the Nijmegen breakage syndrome and Seckel syndrome
  • complicated with distinct EBV-associated B-cell lymphoma, in any cases (having an increased risk for lymphoid malignancies)
    • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    defense and immunity
    Type disease
    Gene product
    Name DNA ligase IV
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   truncated protein R814X
    Remark(s)
    Genotype/Phenotype correlations
  • extreme growth retardation with microcephaly is a common presentation of bilallelic truncating mutations (PMID: 24123394))