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Published on: November 5, 2019
A case of syndromic neutropenia and mutation in G6PC3
Simona Gatti1, Kaan Boztug, Annalisa Pedini
1Division of Pediatric Hematology/Oncology, G Salesi Women's and Children's Hospital, Institute of Mother and Child Health, Polytechnic University of Marche, Italy. simona.gatti@hotmail.it
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.
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