Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma

Clinical Immunology : the Official Journal of the Clinical Immunology Society
Svetlana O SharapovaOlga V Aleinikova

Abstract

Here we present an unusual case of DNA ligase IV deficiency syndrome without dysmorphic facial findings and microcephaly complicated with Epstein-Barr virus-associated large B-cell lymphoma with the right lung involvement and a massive brain tumor lesion in a two-year-old female. PID panel was used for sequencing 55 genes. Most genes have >98% exon coverage including splicing sites. LIG4 gene has 100% exon and splicing site coverage. This was used in Ion Torrent PGM system, the library kit was made by Agilent with Haloplex technology. The sequence analysis software was Alamut, direct sequencing of LIG4 gene was performed after NGS results. We identified three heterozygous mutations in LIG4 gene c.2736+3delC and c.8 C>T (p.A3V) inherited from mother and c.26C>T (p.T9I) - from father after PID panel sequencing and some additional polymorphisms in ATM, NOD2 and NLRP3 genes. This case broadens the clinical spectrum of DNA ligase IV deficiency.

References

Mar 9, 2007·American Journal of Medical Genetics. Part a·Nariaki ToitaTadashi Ariga
May 6, 2008·Blood Reviews·Huy TranMaher K Gandhi
Mar 20, 2010·Expert Reviews in Molecular Medicine·Mary A Slatter, Andrew R Gennery
Dec 12, 2012·The Journal of Allergy and Clinical Immunology·Chris M BaconAndrew R Gennery
Oct 15, 2013·Human Mutation·Jennie E MurrayAndrew P Jackson
Jul 15, 2015·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Shinobu TamuraNobuo Kanazawa

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Citations

Feb 18, 2017·Blood Cancer Journal·O C LeeksmaH Veelken
Nov 29, 2016·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Cristina CifaldiAndrea Finocchi
Jan 30, 2019·Australian Veterinary Journal·K Y ChengP Williamson
Dec 20, 2017·Oncotarget·Zhenzhen Wu, Yuming Wang
Feb 6, 2019·Frontiers in Pediatrics·Aidé Tamara Staines BooneSaul Oswaldo Lugo Reyes
May 31, 2020·Orphanet Journal of Rare Diseases·Bijun SunXiaochuan Wang

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