Two hits in one: Whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype Academic Article uri icon


MeSH Major

  • Craniofacial Abnormalities
  • DNA Ligase ATP
  • Genome
  • Growth Disorders
  • Immunologic Deficiency Syndromes
  • Urologic Diseases


  • We successfully identified a novel ligase IV mutation, causing ligase IV syndrome, and an additional rare leucine-rich repeats and immunoglobulin-like domains 2 gene nonsense mutation, in the context of multiple autosomal recessive conditions due to extensive consanguinity. This work demonstrates the utility of Whole Genome Sequencing data in clinical diagnosis in such cases where the combination of multiple rare phenotypes results in very intricate clinical pictures. It also reports a novel causative mutation and a clinical phenotype, which will help in better defining the essential features of both ligase IV and leucine-rich repeats and immunoglobulin-like domains 2 deficiency syndromes.

publication date

  • November 17, 2016



  • Academic Article



  • eng

PubMed Central ID

  • PMC5114772

Digital Object Identifier (DOI)

  • 10.1186/s12881-016-0346-7

PubMed ID

  • 27855655

Additional Document Info

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