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Behnam M.,Medical Genetics Laboratory of Genome | Ghorbani F.,University of Isfahan | Shin J.-H.,Pusan National University | Kim D.-S.,Pusan National University | And 6 more authors.
Gene | Year: 2015

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. © 2015 Elsevier B.V.. Source

Nouri N.,Isfahan University of Medical Sciences | Nouri N.,Tohid Genetic Counseling Center | Sedghi M.,Isfahan University of Medical Sciences
Journal of Isfahan Medical School | Year: 2011

Background: In this article, we report a non consanguineous normal couple that had a history of one abortion and a death of 3 years old daughter. Case report: After genetic counseling and drawing the familial pedigree, we found that man's mother had history of 3 abortions and 2 death of newborns in her non consanguineous marriage. The man has two normal brothers with completely different morphology, body mass index, and facial features from the proband. Chromosomal study with GC-Banding method on proband's whole blood samples show a pericentric inversion of chromosome 9, [Inv (9) (p11-q13)], in the man but the woman had normal karyotype. Then chromosomal analysis was performed for man's mother and she was carrier of this rearrangement such as her son too. Because of non cooperation of other family members, the chromosomal study on other members of family was not possible. Conclusion: Pericentric inversion of chromosome 9 [Inv (9) (p11-q13)] is one of the frequent chromosomal rearrangements which is consider to be a normal variant with prevalence of 1-3% in population. Although it seems not to correlate with abnormal phenotypes, there have been many controversial reports indicating that it may lead to abnormal clinical conditions such as infertility, congenital heart disease, still birth and dysmorphic features in carriers due to important genes exist in this region that have key rols in gametogenesis, organogenesis and metabolism. In addition, pericentric inversions cause derangement in mating pf homologue chromosomes in meiosis lead to production of abnormal gametes. Source

Nouri N.,Isfahan University of Medical Sciences | Nouri N.,Pediatric Inherited Disease Research Center | Aryani O.,Special Medical Center | Nouri N.,Tohid Genetic Counseling Center | And 2 more authors.
Pediatric Dermatology | Year: 2013

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. © 2013 Wiley Periodicals, Inc. Source

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