Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2

van den Boogaard M. L., Thijssen P. E., Aytekin C., Licciardi F., Kiykim A. A., Spossito L., ...Daha Fazla

CLINICAL GENETICS, cilt.92, sa.4, ss.380-387, 2017 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 92 Sayı: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1111/cge.12979
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.380-387
  • Anahtar Kelimeler: DNMT3B, ICF syndrome, immunodeficiency, ZBTB24, STEM-CELL TRANSPLANTATION, FACIAL ANOMALIES SYNDROME, CENTROMERIC INSTABILITY, PHOSPHOINOSITIDE PHOSPHATASE, ZBTB24 MUTATIONS, IMMUNODEFICIENCY, DNA, DNMT3B, METHYLATION, FIG4
  • Marmara Üniversitesi Adresli: Evet

Özet

BackgroundImmunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, genetically heterogeneous, autosomal recessive disorder. Patients suffer from recurrent infections caused by reduced levels or absence of serum immunoglobulins. Genetically, 4 subtypes of ICF syndrome have been identified to date: ICF1 (DNMT3B mutations), ICF2 (ZBTB24 mutations), ICF3 (CDCA7 mutations), and ICF4 (HELLS mutations).