Vesicourethral Reflux-Induced Renal Failure in a Patient with ICF Syndrome Due to a Novel DNMT3B Mutation

Kutlug S., Ogur G., Yılmaz A., Thijssen P. E., Abur Ü., Yıldıran A.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.170, sa.12, ss.3253-3257, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 170 Sayı: 12
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1002/ajmg.a.37866
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.3253-3257
  • Anahtar Kelimeler: centromeric instability, DNMT3B, ICF syndrome, primary immunodeficiency syndrome, vesicoureteral reflux, FACIAL ANOMALIES, CENTROMERIC INSTABILITY, CHROMOSOME INSTABILITY, ZBTB24 MUTATIONS, IMMUNODEFICIENCY, HETEROCHROMATIN
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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. (C) 2016 Wiley Periodicals, Inc.