Esmat Fazel-Najafabadi

Isfahan University of Medical Sciences

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Maryam Sedghi

Isfahan University of Medical Sciences

Nayereh Nouri

Isfahan University of Medical Sciences

Majid Hosseinzadeh

Isfahan University of Medical Sciences

Shirin Fattahpour

Isfahan University of Medical Sciences

Mansoor Salehi

Isfahan University of Medical Sciences

Omid Aryani

Tehran University of Medical Sciences

Azadeh Keivani

Isfahan University of Medical Sciences

Mahdieh Behnam

Isfahan University of Medical Sciences

Asieh Haghighat-Nia

Isfahan University of Medical Sciences

Narges Nouri

Tabriz University of Medical Sciences

Cooperative Institutions

Isfahan University of Medical Sciences

Alzahra University

Tehran University of Medical Sciences

Alzahra Medical and Education Center

University of Isfahan

Islamic Azad University, Isfahan

University of Tehran

Iran University of Medical Sciences

Isfahan Fertility and Infertility Center

Shahid Beheshti University of Medical Sciences

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Understanding the impact of DIS3 cancer-associated mutations by in silico structure modeling

Gene Reports (2020)

Esmat Fazel-Najafabadi Shirin Fattahpour Hossein Abdali Jafar Nasiri Maryam Sedghi

10.1016/j.genrep.2020.100779

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Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran

Advanced Biomedical Research (2014)

Nayereh Nouri Maryam Sedghi Mahdiyeh Behnam Esmat Fazel-Najafabadi Mansoor Salehi

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by symmetrical proximal muscle weakness and atrophy. According to the severity of the disease and the age of onset, SMA can be divided into three groups. The survival motor neuron (SMN) gene that is located on 5q13 is identified as the disease determining gene. Another gene in this region is neuronal apoptosis inhibitory protein (NAIP), and its functional role in the pathogenesis of SMA has not been fully elucidated. Here, we investigated the correlation between deletions in SMN and NAIP genes with clinical features of SMA patients.

SMN1

10.4103/2277-9175.125872

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Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset

Advanced Biomedical Research (2014)

Maryam Sedghi Nayereh Nouri Esmat Fazel-Najafabadi Mansoor Salehi Majid Hosseinzadeh

Background: The Duchenne muscular dystrophy (DMD) gene is located in the short arm of the X chromosome (Xp21). It spans 2.4 Mb of the human genomic DNA and is composed of 79 exons. Mutations in the Dystrophin gene result in DMD and Becker muscular dystrophy. In this study, the efficiency of multiplex ligation-dependent probe amplification (MLPA) over multiplex polymerase chain reaction (PCR) assays in an Iranian population was investigated. Materials and Methods: Multiplex PCR assays and MLPA analysis were carried out in 74 patients affected with DMD. Results: Multiplex PCR detected deletions in 51% of the patients with DMD. MLPA analysis could determine all the deletions detected by the multiplex PCR. Additionally, MLPA was able to identify one more deletion and duplication in patients without detectable mutations by multiplex PCR. Moreover, MLPA precisely determined the exact size of the deletions. Conclusion: Although MLPA analysis is more sensitive for detection of deletions and duplications in the dystrophin gene, multiplex PCR might be used for the initial analysis of the boys affected with DMD in the Iranian population as it was able to detect 95% of the rearrangements in patients with DMD.

Multiplex

10.4103/2277-9175.125862

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Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries

Gene (2013)

Narges Nouri Esmat Fazel-Najafabadi Mahdieh Behnam Nayereh Nouri Omid Aryani

Nonsense mutation

10.1016/j.gene.2013.11.022

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A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family

International Journal of Pediatric Otorhinolaryngology (2015)

Azadeh Keivani Asieh Haghighat-Nia Esmat Fazel-Najafabadi Majid Hosseinzadeh Mansoor Salehi

Consanguineous Marriage

Compound heterozygosity

Heterozygote advantage

Congenital hearing loss

10.1016/j.ijporl.2015.01.027

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Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families

Journal of Research in Medical Sciences (2016)

Fariborz Mokarian Maryam Sedghi Elham Esfandiari Esmat Fazel-Najafabadi Mansoor Salehi

The second leading cause of cancer deaths in women is breast cancer. Germline mutations in susceptibility breast cancer gene BRCA1 increase the lifetime risk of breast cancer. Eighty-one large genomic rearrangements (LGRs) have been reported up to date in BRCA1 gene, and evaluation of these rearrangements helps with precise risk assessment in high-risk individuals. In this study, we have investigated LGRs in BRCA1 among Iranian high-risk breast cancer families.Seventy patients with breast cancer who were identified negative for point mutations or small deletions/insertions of BRCA1 gene were selected. Deletions and duplications of BRCA1 gene were evaluated using multiplex ligation-dependent probe amplification (MLPA).Two deletions, deletion of exons 1A/1B-2 and exon 24, were detected in two patients with breast cancer. The former alteration was found in a woman with a strong family history of breast cancer while the latter one was detected in a woman with early onset of breast cancer.Although our data confirm that LGRs in BRCA1 comprise a relatively small proportion of mutations in hereditary breast cancer in the Iranian population, MLPA analysis might be considered for screening of LGRs in high-risk individuals. It is worth to note that our results are consistent with previous studies in various Asian and European countries.

10.4103/1735-1995.193167

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Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1

Journal of Child Neurology (2014)

Hamid Ganji Nayereh Nouri Mansoor Salehi Omid Aryani Massoud Houshmand

Proximal spinal muscular atrophy is an autosomal recessive disorder characterized by symmetrical muscle weakness due to degeneration of alpha motor neurons in the spinal cord. Homozygous deletions in the SMN1 have been reported in more than 90% of spinal muscular atrophy cases. Compound heterozygous patients account for approximately 4% of spinal muscular atrophy cases. In this study, we performed a quantitative test in 20 of 87 spinal muscular atrophy patients who did not have homozygous deletion of SMN1. Mutation screening of SMN1 gene was performed in 4 patients who have only 1 copy of SMN1 to identify intragenic mutations. In addition to a previously described missense mutation in exon 4 (p.A188S/ c.562G>T), we identified 2 novel mutations including a single nucleotide insertion in exon 7 (c.861_862insT/p.R288X) and a deletion of nucleotide G in exon 3 (c.286delG/p.D96Tfs*53). Our results suggested that about 4% of spinal muscular atrophy patients have subtle mutations and might be considered in laboratory examination.

SMN1

Compound heterozygosity

10.1177/0883073814521297

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Genetic Counseling in Central Iran: Lack of Public Awareness about Genetic Diseases?

International Journal of Healthcare and Medical Sciences (2016)

Narges Nouri Elham Soleimani Esmat Fazel-Najafabadi Farzaneh Zahedi Fariba Jafary

Objective: The prevalence of consanguineous marriage in Middle East Countries is higher than the rest of the word. In Iran, consanguineous marriages have a frequency between 15.9%- 47%, with the highest in Eastern provinces. To determine prevalence of consanguineous marriage, kind of referral, prevalence of genetic disorders, and reasons of the referral in couples referred to genetic centers in central Iran. Methods: 2141 couples referred from 2008 to 2013 to genetic centers in central Iran fill out a simple questionnaire designed for this study. Results: Our findings indicated that premarital, preconception, prenatal and postnatal counseling had the frequency of 46.8%, 33.9%, 9.6% and 9.6%. At least a genetic disease was diagnosed in 75.3% of the clients. Mental retardation has the highest frequency of 49% among the diseases in the pedigrees. Conclusion: The low frequency of the referrals for premarital counseling and high frequency of diseases in the couplesâ€™ pedigree indicate the poor awareness of the residents in this part of Iran of the genetic centers services. There is a great need for planning educational programs to inform young people about the potential threats of consanguineous marriage and also the merging services in genetics for diagnosis of inherited diseases.

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Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.

PubMed (2019)

Jafar Nasiri Mansoor Salehi Majid Hosseinzadeh Mahdi Zamani Shirin Fattahpour

Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in MECP2 gene, which is a nuclear protein that selectively binds CpG dinucleotides in the genome.To provide further insights into the distribution of mutations in MECP2 gene, we investigated 24 females with clinical characters of Rett syndrome referred to Alzahra University Hospital in Isfahan, Iran during 2015-2017. We sequenced the entire MECP2 coding region and splice sites for detection of point mutations in this gene. Freely available programs including JALVIEW, SIFT, and PolyPhen were used to find out the damaging effects of unknown mutations.Direct sequencing revealed MECP2 mutations in 13 of the 24 patients. We identified in 13 patients, 10 different mutations in MECP2 gene. Three of these mutations have not been reported elsewhere and are most likely pathogenic.Defects in MECP2 gene play an important role in pathogenesis of Rett syndrome. Mutations in MECP2 gene can be found in the majority of Iranian RTT patients. We failed to identify mutations in MECP2 gene in 46% of our patients. For these patients, further molecular analysis might be necessary.

MeCP2

Rett Syndrome

Neurodevelopmental disorder

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Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran

International Journal of Pediatric Otorhinolaryngology (2015)

Asieh Haghighat-Nia Azadeh Keivani Zakiye Nadeali Esmat Fazel-Najafabadi Majid Hosseinzadeh

Coding region

10.1016/j.ijporl.2015.08.039

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Citations (10)