PMID- 23018568 OWN - NLM STAT- MEDLINE DCOM- 20130411 LR - 20191210 IS - 1536-3678 (Electronic) IS - 1077-4114 (Linking) VI - 35 IP - 2 DP - 2013 Mar TI - A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. PG - e81-3 LID - 10.1097/MPH.0b013e3182679000 [doi] AB - 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. FAU - Aytekin, Caner AU - Aytekin C AD - Department of Pediatric Immunology, University School of Medicine, Ankara, Turkey. caneraytekin@yahoo.com FAU - Germeshausen, Manuela AU - Germeshausen M FAU - Tuygun, Nilden AU - Tuygun N FAU - Dogu, Figen AU - Dogu F FAU - Ikinciogullari, Aydan AU - Ikinciogullari A LA - eng PT - Case Reports PT - Journal Article PL - United States TA - J Pediatr Hematol Oncol JT - Journal of pediatric hematology/oncology JID - 9505928 RN - 143011-72-7 (Granulocyte Colony-Stimulating Factor) RN - EC 3.1.3.9 (Glucose-6-Phosphatase) RN - EC 3.1.3.9. (G6PC3 protein, human) RN - Neutropenia, Severe Congenital, Autosomal Recessive 3 SB - IM MH - Adolescent MH - Congenital Bone Marrow Failure Syndromes MH - Female MH - Glucose-6-Phosphatase/*genetics MH - Granulocyte Colony-Stimulating Factor/therapeutic use MH - Humans MH - *Mutation MH - Neutropenia/*congenital/drug therapy/genetics EDAT- 2012/09/29 06:00 MHDA- 2013/04/12 06:00 CRDT- 2012/09/29 06:00 PHST- 2012/09/29 06:00 [entrez] PHST- 2012/09/29 06:00 [pubmed] PHST- 2013/04/12 06:00 [medline] AID - 10.1097/MPH.0b013e3182679000 [doi] PST - ppublish SO - J Pediatr Hematol Oncol. 2013 Mar;35(2):e81-3. doi: 10.1097/MPH.0b013e3182679000.