Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.
ICF syndrome is a primary immunodeficiency disease characterized by hypo- or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory tract infections in infancy. A 20-month-old female patient was referred to our clinic due to frequent lower respiratory tract infections. ICF syndrome was considered because of comorbidity of hypogammaglobulinemia, facial anomalies, and neuromotor growth retardation. Metaphase chromosome analysis revealed centromeric instability on chromosomes 1, 9, and 16 and through Sanger a previously unreported homozygous missense mutation (c.1805T>C; [p.V602A]) was identified in the DNMT3B, confirming ICF1. The patient was found to have a breakdown in renal function 1 year later; the urinary system was examined and bilateral vesicoureteral reflux was found, warranting the need for dialysis in time. This report expands the mutation spectrum of ICF1 and is the first to describe bilateral vesicoureteral reflux accompanying ICF syndrome. © 2016 Wiley Periodicals, Inc.
Division of Immunology and Allergy, Department of Pediatrics, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
Seyhan
S
Kutluğ
Department of Pediatric Genetics, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
Gönül
G
Ogur
Department of Pediatric Genetics, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
Aysegül
A
Yilmaz
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Peter E
PE
Thijssen
Department of Pediatric Genetics, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
Ummet
U
Abur
Division of Immunology and Allergy, Department of Pediatrics, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
Alisan
A
Yildiran
D015415:Biomarkers; D043171:Chromosomal Instability; D002869:Chromosome Aberrations; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D016756:Immunoglobulins, Intravenous; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D007223:Infant; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010808:Physical Examination; D051437:Renal Insufficiency / Q000175:diagnosis* / Q000209:etiology*; D013577:Syndrome; D014718:Vesico-Ureteral Reflux / Q000150:complications* / Q000175:diagnosis; D000097584:DNA Methyltransferase 3B
D015415:Biomarkers; D004248:DNA (Cytosine-5-)-Methyltransferases; D016756:Immunoglobulins, Intravenous; D000097584:DNA Methyltransferase 3B
DNMT3B; ICF syndrome; centromeric instability; primary immunodeficiency syndrome; vesicoureteral reflux