Background: A previously unrecognized syndrome with congenital neutropenia and various organ abnormalities has been described recently, caused by mutations in the gene encoding glucose-6-phosphatase, catalytic subunit 3 (G6PC3). Observation: A 10-year-old boy from Ecuador suffering from severe neutropenia and multiple nonhematopoietic abnormalities was admitted to our department. We identified a novel mutation in the G6PC3 gene (c. 765-delAG; p.S255fs). Conclusions: This is the first case of G6PC3 deficiency in a patient from South America, caused by a novel mutation in the G6PC3 gene. Our results give insights into the molecular and clinical variability of this disease. Copyright © 2011 by Lippincott Williams & Wilkins.
A case of syndromic neutropenia and mutation in G6PC3 / Gatti, S.; Boztug, K.; Pedini, A.; Pasqualini, C.; Albano, V.; Klein, C.; Pierani, P.. - In: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY. - ISSN 1077-4114. - 33:2(2011), pp. 138-140. [10.1097/MPH.0b013e3181f46bf4]
A case of syndromic neutropenia and mutation in G6PC3
Gatti S.;Pedini A.;
2011-01-01
Abstract
Background: A previously unrecognized syndrome with congenital neutropenia and various organ abnormalities has been described recently, caused by mutations in the gene encoding glucose-6-phosphatase, catalytic subunit 3 (G6PC3). Observation: A 10-year-old boy from Ecuador suffering from severe neutropenia and multiple nonhematopoietic abnormalities was admitted to our department. We identified a novel mutation in the G6PC3 gene (c. 765-delAG; p.S255fs). Conclusions: This is the first case of G6PC3 deficiency in a patient from South America, caused by a novel mutation in the G6PC3 gene. Our results give insights into the molecular and clinical variability of this disease. Copyright © 2011 by Lippincott Williams & Wilkins.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
