Publications by authors named "Narges Nouri"

13 Publications

  • Page 1 of 1

The Association of Health Literacy with Breast Cancer Knowledge, Perception and Screening Behavior.

Eur J Breast Health 2018 Jul 1;14(3):144-147. Epub 2018 Jul 1.

BSc in Midwifery, Zahedan University of Medical Sciences, Zahedan, Iran.

Objective: The incidence of breast cancer among Iranian women is increasing, and 70% of patients are diagnosed at advanced stages. The current study aimed at evaluating the association of health literacy (HL) with breast cancer knowledge, perception, and screening behavior in women.

Materials And Methods: The current cross- sectional, descriptive study was conducted on 250 women who referred to health centers in Zahedan, Iran. Data collection instrument included a demographic information form, Iranian Health Literacy Questionnaire (IHLQ), and Champion's health belief model scale.

Results: The majority of participants (89.6%) had limited HL. Participants with limited HL had less breast cancer knowledge, and less perceived severity than who had higher HL score. Participants with higher HL score had done breast self-exam (BSE) more than the others. There was no significant relationship between HL and clinical breast examination (CBE), and with perceived susceptibility.

Conclusion: Interventions to enhance breast cancer knowledge and screening should notice the HL of women.
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http://dx.doi.org/10.5152/ejbh.2018.3757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092154PMC
July 2018

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations.

J Med Ethics Hist Med 2017 10;10:12. Epub 2017 Dec 10.

Professor, Medical Ethics and History of Medicine Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Consanguineous marriage, which is common in many regions in the world, has absorbed much attention as a causative factor in raising the incidence of genetic diseases. The adverse effects may be attributed to the expression of the genes received from common ancestors and mortality and morbidity of the offspring. Iran has a high rate of consanguineous marriages. In recent years genetic counseling has come to be considered in health care services. This cross-sectional study was conducted in order to determine the prevalence and types of consanguineous marriages in the genetic clinics in Isfahan. We aimed to define the different types of marriages, specific categories of genetic disorders associated with consanguineous marriages, and mode of inheritance in the family tree. We also narratively reviewed the ethical aspects of the issue. The data were collected using a simple questionnaire. A total number of 1535 couples from urban and rural areas formed the study population. The marriages were classified according to the degree of the relationship between couples, including: double cousin, first cousin, first cousin once removed, second cousin and beyond second cousin. The SPSS software version 16 was used for data analysis. Data obtained through genetic counseling offered during a 5-year period revealed that 74.3% had consanguineous relationships, 62.3% were first cousins, 1% were double cousins and 7.8% were second cousins. In addition, 76% of the couples had at least one genetic disease in their family tree. Related ethical issues were also considered in this study, including autonomy and informed decision making, benefit and harm assessment, confidentiality, ethics in research, justice in access to counseling services, financial problems ethics, and the intellectual property of scientific success.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797678PMC
December 2017

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.

Adv Biomed Res 2016 27;5:201. Epub 2016 Dec 27.

Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Surgery, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very helpful in early diagnosis and treatment.

Materials And Methods: Since 69% of individuals with 22q11.2 deletion have a palatal abnormality, we studied the prevalence of 22q11.2 deletion syndrome in 378 Iranian patients during a 5-year period, including 291 patients affected with cleft palate only without cleft lip (CPO) and 87 patients affected with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP). DNA copy number was analyzed with multiplex ligation-dependent probe amplification (MLPA) technique.

Results: In our study, 15/378 (3.97%) patients with palatal anomalies showed 22q11.2 deletion. Interestingly, this prevalence between syndromic patients was 15/104 (14.42%).

Conclusion: It seems that SMCP or VPI, in addition to one or more another features of 22q11.2 deletions, especially developmental delay, may be good criteria for molecular investigation of 22q11.2 region.
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http://dx.doi.org/10.4103/2277-9175.192728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220684PMC
December 2016

Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.

J Gastrointestin Liver Dis 2015 Dec;24(4):523-6

Division of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Crigler-Najjar syndrome type I (CN-1) and type II (CN-2) are rare hereditary unconjugated hyperbilirubinemia disorders. However, there have been no reports regarding the co-existence of CN-1 and CN-2 in one family. We experienced a case of an Iranian family that included members with either CN-1 or CN-2. Genetic analysis revealed a mutation in the bilirubin UDP-glucuronosyltransferase (UGT1A1) gene that resulted in residual enzymatic activity.

Case Report: The female proband developed severe hyperbilirubinemia [total serum bilirubin concentration (TB) = 34.8 mg/dL] with bilirubin encephalopathy (kernicterus) and died after liver transplantation. Her family history included a cousin with kernicterus (TB = 30.0 mg/dL) diagnosed as CN-1. Her great grandfather (TB unknown) and uncle (TB = 23.0 mg/dL) developed jaundice, but without any treatment, they remained healthy as CN-2.

Results: The affected cousin was homozygous for a novel frameshift mutation (c.381insGG, p.C127WfsX23). The affected uncle was compound heterozygous for p.C127WfsX23 and p.V225G linked with A(TA)7TAA. p.V225G-UGT1A1 reduced glucuronidation activity to 60% of wild-type. Thus, linkage of A(TA)7TAA and p.V225G might reduce UGT1A1 activity to 18%-36 % of the wild-type.

Conclusion: Genetic and in vitro expression analyses are useful for accurate genetic counseling for a family with a history of both CN-1 and CN-2.
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http://dx.doi.org/10.15403/jgld.2014.1121.244.ugtDOI Listing
December 2015

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.

Genet Res Int 2015 12;2015:398063. Epub 2015 Nov 12.

Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran ; Craniofacial and Cleft Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.
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http://dx.doi.org/10.1155/2015/398063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660028PMC
December 2015

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation.

Gene 2015 Oct 15;570(1):150-2. Epub 2015 Jun 15.

Neurology Department, Isfahan Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address:

Frontotemporal dementia is a neurodegenerative disorder among adults. An autosomal-dominantly form of frontotemporal dementia and parkinsonism linked to chromosome 17q21.2 (FTDP-17) was defined in 1996. The MAPT gene is responsible for the major cases of FTDP-17, and tau also has a role in Alzheimer's disease. So far, different FTDP-17 causing mutations have been identified in the MAPT gene. Among different MAPT mutations, the R406W mutation has been reported with a phenotype resembling Alzheimer's disease. Nonetheless, in this study we have identified the first homozygous case of R406W mutation in an Iranian family which shows characteristics of FTDP, just like the other heterozygous mutations of MAPT. This study clearly indicates that homozygous R406W mutation could result in FTDP phenotype. Our family confirms heterogeneity in the clinical phenotype of MAPT mutations; moreover, in the R406W mutation, a dosage effect is likely to contribute to this clinical heterogeneity.
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http://dx.doi.org/10.1016/j.gene.2015.06.033DOI Listing
October 2015

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.

Hum Genome Var 2015 17;2:15034. Epub 2015 Sep 17.

Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.

Warburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four disease genes for Warburg micro syndrome, RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20, have been identified. Here, we report two novel homozygous RAB3GAP1 mutations (c.22G>T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing.
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http://dx.doi.org/10.1038/hgv.2015.34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785564PMC
April 2016

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population.

Clin Oral Investig 2015 May 16;19(4):891-4. Epub 2014 Sep 16.

Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.

Objectives: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect which is strongly associated with genetic factors. Previous studies in several populations showed a significant correlation between IRF6 rs642961 polymorphism and NSCL/P. The aim of this study is to indicate the correlation of IRF6 rs642961 polymorphism and NSCL/P in Iranian NSCL/P families.

Material And Methods: In this study, we analyzed IRF6 rs642961 genotype in 352 individuals from 102 Iranian nuclear families affected by NSCL/P using iPlex assay on a Sequenom MassARRAY platform. Hardy-Weinberg equilibrium and Mendelian error checking were performed by Haploview 4.2. Allelic association analysis was conducted with family-based association tests implemented in FBAT program v2.03.

Results: The family-based association analysis revealed no significant association between IRF6 rs642961 genotypes and an increased NSCL/P risk.

Conclusions: In contrast to other Asian populations, our study indicates that the IRF6 rs642961 polymorphism cannot be a risk factor for NSCL/P in an Iranian population.

Clinical Relevance: Genetic factors have an important role in NSCL/P, among which interferon regulatory factor 6 (IRF6) has been reported as a risk factor for NSCL/P in several populations; however, our data indicated no significant association between IRF6 polymorphism and NSCL/P in an Iranian population.
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http://dx.doi.org/10.1007/s00784-014-1305-3DOI Listing
May 2015

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

Gene 2014 Feb 22;535(2):250-4. Epub 2013 Nov 22.

Pediatric Inherited Disease Research Center (PIDRC), Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address:

DMD gene which is composed of 79 exons is the largest known gene located on X chromosome (Xp21). Point mutations in the dystrophin gene are responsible for 30-35% of cases with DMD/BMD. Mutation analysis of all the exons of the DMD gene is costly in developing countries, therefore, a few of the exons are selected to be analyzed routinely in clinical laboratories. In this study, direct sequencing was used for detection of point mutations in 10 exons of dystrophin gene in patients affected with DMD without detectable large rearrangements. Freely available programs were used to predict the damaging effects of the mutations. Point mutations were successfully detected in three patients. Three novel mutations, two missense mutations located on nonconservative domains and a single nucleotide deletion, were detected. Missense mutations were predicted to change splicing efficiency. Detection of point mutations by DNA analysis followed by prediction of the pathogenecity by using bioinformatic tool might be an asset to provide proper diagnosis or genetic counseling to patients and their family.
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http://dx.doi.org/10.1016/j.gene.2013.11.022DOI Listing
February 2014

Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene.

Pediatr Dermatol 2013 Nov-Dec;30(6):e265-7. Epub 2013 Feb 14.

Molecular Genetic Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Disease Research Center, Isfahan, Iran.

A 14-year-old Iranian boy with congenital cutis laxa and several other typical autosomal recessive type II features was examined. Mutation analysis of the pyrroline-5-carboxylate reductase 1 gene revealed a single-base deletion (c.345delC) in exon 4 leading to frame shift and premature termination of translation.
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http://dx.doi.org/10.1111/pde.12065DOI Listing
August 2014

A case report of 22q11 deletion syndrome confirmed by array-CGH method.

J Res Med Sci 2012 Mar;17(3):310-2

Molecular Genetics Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.

Velo-cardio-facial syndrome (VCFS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons, making it the second most prevalent genetic syndrome after Down syndrome and the most common genetic syndrome associated with cleft palate. Most of the 22q11.2 deletion cases are new occurrences or sporadic; however, in about 10 % of families, the deletion is inherited and other family members are affected or at risk for passing this deletion to their children. This report describes a 1.5 years-old male child with clinical signs of velo-cardio-facial syndrome (VCFS) presented with heart defect, soft cleft palate, developmental delay, acrocephaly, seizure, MRI abnormalities and descriptive facial feature, such as hypertelorism. Array-CGH test was done to confirm the diagnosis; the result revealed a 2.6 Mbp deletion in 22q11.2 chromosome that containing TBX1 and COMT genes. Our data suggest that haploinsufficiency of TBX1 gene is probably a major contributor to some of the syndrome characteristic signs, such as heart defect. Because of developmental delay and dysmorphic facial feature were observed in the index's mother and relatives, inherited autosomal dominant form of VCF is probable, and MLPA (multiplex ligation-dependent probe amplification) test should be performed for parents to estimate the recurrent risk in next pregnancy.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3527053PMC
March 2012

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.

Iran Biomed J 2012 ;16(4):223-5

Dept. of Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.

Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein.

Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decreased albumin concentration in serum. PCR and direct DNA sequencing was performed after DNA extraction.

Results: Sequencing analysis revealed a novel homozygous deletion in c.643 and A>T single nucleotide polymorphism in c.641 in exon 6 of the APTX gene [ENST00000379825].

Conclusion: It seems that this region of exon 6 is probably a hot spot; however, no deletions have been reported in exon 6 yet.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600965PMC
http://dx.doi.org/10.6091/ibj.1077.2012DOI Listing
June 2013

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

Int J Pediatr Otorhinolaryngol 2012 Aug 12;76(8):1164-74. Epub 2012 Jun 12.

Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Objective: Mutations in GJB2, encoding connexin 26 (CX26), are causally related to autosomal recessive form of non-syndromic hearing loss (NSHL) at the DFNB1 locus and autosomal dominant NSHL at the DFNA3 locus. In this study, we investigated the prevalence of GJB2 mutations in the Iranian deaf population.

Methods: A total of 2322 deaf probands presenting the ethnically diverse Iranian population were screened for variants in GJB2. All persons were first screened for the c.35delG mutation, as this variant is the most prevalent GJB2-deafness causing mutation in the Iranian population. In all persons carrying zero or one c.35delG allele, exons 1 and 2 were then sequenced.

Results: In total, 374 (~16%) families segregated GJB2-related deafness caused by 45 different mutations and 5 novel variants. The c.35delG mutation was most commonly identified and accounts for ~65% of the GJB2 mutations found in population studied.

Conclusion: Our data also show that there is a gradual decrease in the frequency of the c.35delG mutation and of GJB2-related deafness in general in a cline across Iran extending from the northwest to southeast.
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http://dx.doi.org/10.1016/j.ijporl.2012.04.026DOI Listing
August 2012