Two cases of syndromic neutropenia with a report of novel mutation in G6PC3

Zahra Alizadeh, Mohammad Reza Fazlollahi, Payman Eshghi, Amir Ali Hamidieh, Mohsen Ghadami, Zahra Pourpak
2011 Iranian Journal of Allergy, Asthma and Immunology  
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR. Also, recently G6PC3 as a rare gene in SCN has been reported. Patients with G6PC3 often have cardiac and/or urogenital malformations. Two patients with persistent severe neutropenia, recurrent infections and maturation arrest at promyelocyte-myelocyte stage in their bone marrow were assessed in this study. Both patients showed
more » ... atients showed structural heart disease and one of them also showed urogenital anomaly. Sequence analyses of G6PC3 in 2 patients revealed two different homozygous mutations, one in exon 6 (Asn 313 fs), and the other in exon 3 (Ser 139 Met), the latter is a new mutation which has not been reported in previous studies. It can be concluded that G6PC3 is one of the responsible gene for SCN in Iranian patients. Based on the results, a new mutation in G6PC3 observed in one patient.
pmid:21891829 fatcat:mfvuy6oem5e5hpn4xagf3wablm