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...

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Published in:American journal of medical genetics. Part A 2016-12, Vol.170A (12), p.3253-3257
Main Authors: Kutluğ, Seyhan, Ogur, Gönül, Yilmaz, Aysegül, Thijssen, Peter E., Abur, Ummet, Yildiran, Alisan
Format: Article
Language:English
Subjects:
Biomarkers
centromeric instability
Chromosomal Instability
Chromosome Aberrations
DNA (Cytosine-5-)-Methyltransferases - genetics
DNA Methyltransferase 3B
DNA Mutational Analysis
DNMT3B
Facies
Female
Genetic Association Studies
Humans
ICF syndrome
Immunoglobulins, Intravenous
Immunologic Deficiency Syndromes - diagnosis
Immunologic Deficiency Syndromes - drug therapy
Immunologic Deficiency Syndromes - genetics
Infant
Mutation
Pedigree
Phenotype
Physical Examination
primary immunodeficiency syndrome
Renal Insufficiency - diagnosis
Renal Insufficiency - etiology
Syndrome
Vesico-Ureteral Reflux - complications
Vesico-Ureteral Reflux - diagnosis
vesicoureteral reflux
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37866