A novel G6PC3 gene mutation in a patient with severe congenital neutropenia
Journal of Pediatric Hematology/Oncology, cilt.35, sa.2, 2013 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 35 Sayı: 2
- Basım Tarihi: 2013
- Doi Numarası: 10.1097/mph.0b013e3182679000
- Dergi Adı: Journal of Pediatric Hematology/Oncology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Anahtar Kelimeler: severe congenital neutropenia, G6PC3, myelokathexis, dyslipidemia, recurrent infections
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a newly described syndromic type of severe congenital neutropenia, associated with multiple organ abnormalities including facial, cardiac, and urogenital abnormalities, and increased visibility of superficial veins. The molecular pathophysiology of G6PC3 deficiency is associated with the disturbed glucose homeostasis, increased endoplasmic reticulum stress, and apoptosis in neutrophils. We report a new case of G6PC3 deficiency caused by a novel homozygous G6PC3 gene mutation (p.Leu154Pro). Most remarkable is that the chronic neutropenia that originated from this novel G6PC3 genetic defect is also accompanied by some other unusual manifestations in this patient: myelokathexis and hypercholesterolemia. Copyright © 2013 by Lippincott Williams & Wilkins.