Genetic Counseling Center

Izeh, Iran

Genetic Counseling Center

Izeh, Iran

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Salamian A.,Royan Institute for Biotechnology | Mohamadynejad P.,Royan Institute for Biotechnology | Mohamadynejad P.,Islamic Azad University | Ghaedi K.,Royan Institute for Biotechnology | And 12 more authors.
Annals of Clinical and Laboratory Science | Year: 2013

Rhizomelic Chondrodysplasia Punctata (RCDP) type 1 is a peroxisomal biogenesis disorder with a genetic abnormality in PEX7 gene. In the present study, mutational analysis was performed on two Iranian RCDP patients with distinct clinical phonotype. Mutation detection was carried out by sequencing of RT-PCR product consisting the whole length of PEX7 cDNA. Sequence data revealed the same missense homozygous mutation of G to A at nucleotide 257 in exon3 of PEX7 coding sequence in both patients. Moreover, genomic analysis of the PEX7 gene confirmed the RT-PCR data. This mutation caused one amino acid residue substitution of Cys to Tyr at codon 86 located on WD1 repeat domain region of Pex7p, which severely affected the functionality of PEX7 protein. Back-transfection of vector encoding mutant Pex7p did not restore the normal peroxisomal function in RCDP patient's fibroblast cells dissimilar to the native type of PEX7. © 2013 by the Association of Clinical Scientists, Inc.


Kashef A.,University of Social Welfare and Rehabilitation Sciences | Nikzat N.,University of Social Welfare and Rehabilitation Sciences | Bazzazadegan N.,University of Social Welfare and Rehabilitation Sciences | Fattahi Z.,University of Social Welfare and Rehabilitation Sciences | And 8 more authors.
International Journal of Pediatric Otorhinolaryngology | Year: 2015

Objective: Hereditary hearing loss is the most common neurosensory disorder in humans. Half of the cases have genetic etiology with extraordinary genetic heterogeneity. Mutations in one gene, GJB2, are the most common cause for autosomal recessive non-syndromic hearing loss (ARNSHL) in many different populations. GJB2 encodes a gap junction channel protein (connexin 26), and is located on DFNB1 locus on chromosome 13q12.11 which also involve another connexin gene, GJB6. Mutation screening of GJB2 revealed that a high number of patients with deaf phenotype have heterozygous genotype and carry only one mutant allele. As the first comprehensive study in Iran, we have targeted GJB2-related Iranian heterozygotes, looking for second mutant allele which leads to hearing impairment. They bear first mutation in their coding exon of GJB2. Method: Using PCR-based direct sequencing, we assessed 103 patients with ARNSHL for variants in non-coding exon and promoter region of this gene, for the first time in Iran. Result: We have identified the second mutant allele in splice site of exon-1 of GJB2 which is known as IVS1. +. 1G. > A in 17 probands. We found no mutation in promoter region of GJB2. Conclusion: Our findings reveal that IVS1. +. 1G. > A mutation in noncoding exon of GJB2 is the most common mutation after 35delG within multi ethnical Iranian heterozygote samples. It emphasizes to approach exon1 of GJB2 in case of ARNSHL genetic diagnosis. © 2014 Elsevier Ireland Ltd.


Bazazzadegan N.,University of Social Welfare and Rehabilitation Sciences | Nikzat N.,University of Social Welfare and Rehabilitation Sciences | Fattahi Z.,University of Social Welfare and Rehabilitation Sciences | Nishimura C.,University of Iowa | And 17 more authors.
International Journal of Pediatric Otorhinolaryngology | Year: 2012

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. © 2012 Elsevier Ireland Ltd.


Nouri N.,Isfahan University of Medical Sciences | Nouri N.,Genetic Counseling Center | Aryani O.,Special Medical Center | Kamalidehghan B.,University of Malaya | And 2 more authors.
Iranian Biomedical Journal | Year: 2012

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.


PubMed | Iran National Institute of Genetic Engineering and Biotechnology, Genetic Counseling Center, University of Malaya and Special Medical Center
Type: Case Reports | Journal: Iranian biomedical journal | Year: 2012

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.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.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].It seems that this region of exon 6 is probably a hot spot; however, no deletions have been reported in exon 6 yet.


Sabouri Ghannad M.,Hamadan University of Medical Sciences | Roshanaei G.,Hamadan University of Medical Sciences | Habibi H.,Genetic Counseling Center | Yousefi S.,Hamadan University of Medical Sciences
Acta Medica Iranica | Year: 2014

Cytomegalovirus (CMV) and rubella are considered as dangerous viral infections to the fetus. The findings of this research can clear the possible progress made thus far toward prevention in this part of the country. The data of all referees to genetic center of Shahid Beheshti Hospital in Hamadan, including the rubella and CMV tests were recorded in questionnaires and analyzed by logistic regression models. Univariate and multivariate logistic regression were utilized to assess the affected factors on CMV and Rubella separately. STATA and SPSS16 statistical software were used with setting P-value as 0.05. Logistic regression analysis indicates a statistically significant relationship between CMV IgM and on occupation (P=0.045), pregnancy (P=0.03) and years of referring the patients (P<0.001). The results of multivariate logistic regression analysis showed that job was significantly affected on the CMV infection [OR (95% C.I) = 1.71(1.1-2.83)]. Univariate logistic regression showed that age (P=0.001), the residential area (P=0.03), pregnancy (P=0.03), the marital status (P=0.022) and years of referring the patients (P<0.0001) has a significant effect on rubella IgG. However, multivariate logistic regression analysis also showed that residential status (OR=1.77) and age (OR=0.63) were significantly affected on the Rubella infection. The high level of IgG positivity against rubella in females may highlight the considerable impact of increasing public vaccination in this part of Iran. Also, the current data demonstrating frequency of primary infections with CMV in females which support the conclusion that regular prenatal screening tests is justified. © 2014 Tehran University of Medical Sciences. All rights reserved.


Ghadami S.,Pasteur Institute of Iran | Mohammadi H.M.,Genetic Counseling Center | Malbin J.,Genetic Counseling Center | Masoodifard M.,Kawsar Human Genetics Research Center | And 4 more authors.
Clinical Laboratory | Year: 2015

Background: Non-syndromic autosomal recessive intellectual disability (NS-ARID) is an extremely heterogeneous genetic disorder. Therefore, to investigate these genes, more research is required. One approach to investigate the NS-ARID loci is homozygosity mapping which requires appropriate STR markers within or flanking the gene/s of interest. In this research, we aimed to find novel STRs for two common NS-ARID genes (TUSC3 and NSUN2) and, in addition, to identify allele frequencies of those STR markers. Methods: The study group included 119 unrelated healthy individuals. STR markers were investigated using the UCSC genome browser web site and SERV software. Genotyping was determined by multiplex PCR. Data were evaluated using Gene Mapper software. Allele frequencies and observed heterozygosity rates were calculated using PowerStatV12. Deviation from Hardy-Weinberg equilibrium and expected heterozygosity were assessed using the DNAView™ software. Results: In total, 56 alleles were detected. According to our research, D8TUSC3SU8.3 and D5NSUN2SU0.5 were the most informative STR markers in MRT7 and MRT5 loci, respectively and showed a high percentage of heterozygosity in Iranian population. The observed range of allele frequencies was from 3.4% to 32.4% and 0.8% to 18.9% for MRT5 and MRT7 loci, respectively. Further, we have evaluated other statistical surveys of these STR markers and discovered that all of the six listed STRs were informative and five meet the Hardy-Weinberg equilibrium for the tester group. Conclusions: Finding novel STRs, with high allele heterozygosity, is one of the most significant current finding in the present study for the two common NSARID genes. The recognized heterozygosity of these markers make MRT flanking STR markers very efficient to be used in diagnostic medical genetics labs or homozygosity mapping on NS-ARID.

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