title: Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations).
abstract: Severe congenital neutropenia (SCN) is a rare primary immunodeficiency disease. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR and G6PC3. The aim of this study was to find different gene mutations responsible for SCN in Iranian patients. Twenty-seven patients with SCN referred to Immunology, Asthma and Allergy Research Institute during a five year priod 5 years (May 2007 and May 2012), were included in this study. Neutropenia related exons and flanking regions of ELA2, HAX1, WAS, GFI1, G-CSFR and G6PC3 were amplified by PCR and the sequences were analyzed. The results showed different mutations including 4 ELANE mutations, 11 HAX1 mutations and 2 G6PC3 mutations. None of the patients had GFI1 mutation and also one mutation was found in G-CSFR in a patient with ELANE mutation. Ten patients had unknown genetic diagnosis which was compatible with other studies. According to these results, most of the patients showed HAX1 mutations and this finding which significantly differed from other reports, might be related to differences in Iranian ethnicity and also in high rate of consanguineous marriages in Iran.
authors: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran. pourpakz@tums.ac.ir.
authors: Zahra
authors: Z
authors: Alizadeh
authors: Mohammad Reza
authors: MR
authors: Fazlollahi
authors: Massoud
authors: M
authors: Houshmand
authors: Marzieh
authors: M
authors: Maddah
authors: Zahra
authors: Z
authors: Chavoshzadeh
authors: Amir Ali
authors: AA
authors: Hamidieh
authors: Bibi Shahin
authors: BS
authors: Shamsian
authors: Payman
authors: P
authors: Eshghi
authors: Samaneh
authors: S
authors: Bolandghamat Pour
authors: Hoda
authors: H
authors: Sadaaie Jahromi
authors: Mahboobeh
authors: M
authors: Mansouri
authors: Masoud
authors: M
authors: Movahedi
authors: Mohsen
authors: M
authors: Nayebpour
authors: Zahra
authors: Z
authors: Pourpak
authors: Mostafa
authors: M
authors: Moin
mesh_terms: D024509:3' Flanking Region; D024506:5' Flanking Region; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D002648:Child; D000080984:Congenital Bone Marrow Failure Syndromes; D003241:Consanguinity; D005091:Exons; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D006801:Humans; D007492:Iran; D019272:Leukocyte Elastase / Q000235:genetics*; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009504:Neutrophils / Q000378:metabolism* / Q000473:pathology; D017422:Sequence Analysis, DNA
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human; D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human; D019272:Leukocyte Elastase