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A novel mutation in a family with DNA ligase IV deficiency syndrome
Author(s) -
Unal Sule,
Cerosaletti Karen,
UckanCetinkaya Duygu,
Cetin Mualla,
Gumruk Fatma
Publication year - 2009
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22031
Subject(s) - medicine , dna ligase , mutation , genetics , dna , biology , gene
DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double‐strand breaks by non‐homologous end‐joining. Herein, we report two siblings with LIG4 syndrome with a novel mutation. One of the siblings, who had normocellular marrow, had autologous reconstitution after initial non‐myeloablative conditioning and underwent successful second hematopoietic stem cell transplantation after conditioning with busulfan, cyclophosphamide, and anti‐thymocyte globulin. Our findings indicate that transplantation with myeloablative conditioning can be used successfully in LIG4 syndrome patients. Pediatr Blood Cancer 2009;53:482–484. © 2009 Wiley‐Liss, Inc.