Sahand Khamooshian's research while affiliated with Kermanshah University of Medical Sciences and other places
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Publications (4)
Background
Familial Mediterranean fever (FMF), known as a disease with a high prevalence rate among Armenian, Turkish, Jewish, and Arab descent populations, occurs as a result of pathogenic variants in mediterranean fever ( MEFV ) gene. The aim of this study was to review the spectrum and frequency of MEFV gene mutations reported among Iranian FMF...
Background
6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is an autosomal recessive disorder caused by PTS gene mutations. The aim of this study was to collect all PTS gene variants detected among Iranian patients with PTPS deficiency as well as in the Iranome project and classify them based on American College of Medical Genetics and Genom...
In this study, the spectrum and frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations previously reported among Iranian cystic fibrosis (CF) patients have been reviewed and discussed. Using the keywords of Cystic Fibrosis, CF, CFTR, and Iran, along with their Persian equivalents, a comprehensive search was performed...
As one of the highest prevalence rates in the world, the prevalence of Phenylketonuria (PKU) in Iran has been estimated at 16.5 per 100,000 neonates. The objective of this study was to evaluate the spectrum and frequency of mutations of the phenylalanine hydroxylase (PAH) gene in Iranian PKU patients. A systematic review was carried out on previous...
Citations
... Moreover, a study conducted by Khamooshian et al. in connection with PTS gene variants in Iran reported this mutation (Khamooshian et al., 2022). This study showed that 59.2% (32 of 54) of the mutations found in the PTS gene in the Iranian race were found in the intronic region. ...
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... In Iran, a total of 38 various mutations in the MEFV gene have been recognized, and M694V, E148Q, V726A, M680I, and M694I were the most common among Iranian FMF patients. Moreover, in the southwest of Iran, M694V, V726A, and M694I are the most common types of mutations [34]. In the present study, entire exons of the MEFV gene were sequenced for 13 patients suffering from FMF in southwest of Iran. ...
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... Also detected were rare variant c.1161delC previously identified in India and Pakistan, while variants c.1367T>C (Val456Ala) and c.2738A>G are unique to Sri Lanka. (Mei-Zahav et al., 2005;Alibakhshi et al., 2021). ...
... In 2010, Bonyadi et al reported this mutation with a frequency of 3.4% among Iranian Azeri Turkish patients with PKU (8). Moreover, Alibakhshi et al reported PAH mutation with a frequency of 0.42% (9). Furthermore, Shirzadeh et al demonstrated this mutation in 3 patients among 635 PKU patients in Iran (10). ...
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