title: Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.
abstract: 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 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.
authors: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors: Zahra
authors: Z
authors: Alizadeh
authors: Mohammad Reza
authors: MR
authors: Fazlollahi
authors: Payman
authors: P
authors: Eshghi
authors: Amir Ali
authors: AA
authors: Hamidieh
authors: Mohsen
authors: M
authors: Ghadami
authors: Zahra
authors: Z
authors: Pourpak
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D017668:Age of Onset; D001483:Base Sequence; D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D004252:DNA Mutational Analysis; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation
chemical_list: D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human