A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome.

Kaya Z., Ehl S., Albayrak M., Maul-Pavicic A., Schwarz K., Kocak U., ...Daha Fazla

Pediatric blood & cancer, cilt.56, sa.7, ss.1136-9, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 7
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1002/pbc.22878
  • Dergi Adı: Pediatric blood & cancer
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1136-9
  • Anahtar Kelimeler: Chediak Higashi syndrome, LYST gene, point mutation, IMMUNODEFICIENCY, IDENTIFICATION
  • Gazi Üniversitesi Adresli: Evet

Özet

Chediak Higashi syndrome (CHS) is an autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent infections and a progressive primary neurological disease. Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. While one sibling was born with fair skin and hair and died of hemophagocytic lymphohistiocytosis (HLH) at 5 months of age, the other sibling had dark black hair and skin and developed HLH at the age of 4 years. Pediatr Blood Cancer 2011;56:1136-1139. (C) 2011 Wiley-Liss, Inc.