Different Pattern of Gene Mutations in Iranian Patients with Severe Congenital Neutropenia (Including 2 New Mutations)
-
Zahra Alizadeh
,
Mohammad Reza Fazlollahi
,
Massoud Houshmand
,
Marzieh Maddah
,
Zahra Chavoshzadeh
,
Amir Ali Hamidieh
,
Bibi Shahin Shamsian
,
Payman Eshghi
,
Samaneh Bolandghamat Pour
,
Hoda Sadaaie Jahromi
,
Mahboobeh Mansouri
,
Masoud Movahedi
,
Mohsen Nayebpour
,
Zahra Pourpak
,
Mostafa Moin
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.
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| Issue | Vol 12, No 1 (2013) | |
| Section | Articles | |
| Keywords | ||
| Neutropenia Gene mutation Severe congenital neutropenia | ||
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