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.
Division of Pediatric Hematology, Faculty of Medicine, Department of Pediatrics, Hacettepe University, 06100 Sihhiye, Ankara, Turkey. suleunal@hacettepe.edu.tr
Sule
S
Unal
Karen
K
Cerosaletti
Duygu
D
Uckan-Cetinkaya
Mualla
M
Cetin
Fatma
F
Gumruk
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