A novel mutation in a family with DNA ligase IV deficiency syndrome.
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.
Unal
Sule
S
Division of Pediatric Hematology, Faculty of Medicine, Department of Pediatrics, Hacettepe University, 06100 Sihhiye, Ankara, Turkey. suleunal@hacettepe.edu.tr
Cerosaletti
Karen
K
Uckan-Cetinkaya
Duygu
D
Cetin
Mualla
M
Gumruk
Fatma
F
D002648:Child; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D013577:Syndrome
C000607893:LIG4 protein, human; D011088:DNA Ligases; D000072481:DNA Ligase ATP