Majid Fardaei
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
[ 1 ] - A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy
Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...
[ 2 ] - DNA Sequence Fragment Containing C to A Mutation as a Convenient Mutation Standard for DHPLC Analysis
Objective(s): Denaturing high performance liquid chromatography (DHPLC) is a high throughput approach for screening DNA sequence variations. To assess oven calibration, cartridge performance, buffer composition and stability, the WAVE Low and High Range Mutation Standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. The purpose of this study was to provi...
[ 3 ] - تجزیه و تحلیل ژنتیکی و فیلوژنتیکی ناحیه HVR1 ژنوم میتوکندری در شش نژاد گوسفند ایرانی
سابقه و هدف: به دلیل تعداد افراد کم در جمعیت‌های گوسفند بومی موجود در نقاط مختلف ایران، حفظ تنوع ژنتیکی این جمعیت‌ها برای انجام برنامه‌های اصلاح نژادی بسیار مهم است. همچنین این نکته را باید متذکر شد که نژادهای گوسفند بومی به عنوان سرمایه ملی کشور محسوب می‌شوند و حفظ تنوع ژنتیکی آن‌ها بسیار ضروری می‌باشد. بررسی ژنوم میتوکندری شاخصی مناسب برای نشان دادن میزان تنوع ژنتیکی در جمعیت‌های مختلف دامی ا...
[ 4 ] - Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene
Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...
[ 5 ] - MSX1 Mutation in Witkop Syndrome; A Case Report
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...
[ 6 ] - Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome
Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficienc...
[ 7 ] - The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report
Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; ther...
[ 8 ] - Founder Effect of KHDC3L, p.M1V Mutation, on Iranian Patients with Recurrent Hydatidiform Moles
Background: Recurrent hydatidiform moles (RHMs) are an unusual pregnancy with at least two molar gestations that are associated with abnormal proliferation of trophoblastic tissue and a failure in the embryonic tissues development. Three maternal-effect genes, including NLRP7, KHDC3L, and PADI6 have been identified as the cause of RHMs. The present study aimed to understand the association of a...
[ 9 ] - A Novel Mutation in NLRP7 Related to Recurrent Hyda-tidiform Mole and Reproductive Failure
Objective Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, which is divided into two Complete (CHM) and Partial (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental hydatidiform mole (BiHMs) or recurrent hydatidiform mole (RHM). NLRP7 and KHDC3L, two maternal-effect g...
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