Association of MTHFR C677T Polymorphism with Preeclampsia in North East of Iran (Khorasan Province).

Background: Preeclampsia (PE) is one of the main causes of fetal and maternal mortality. The analysis of candidate gene polymorphisms can improve our understanding of the mechanisms underlying pathogenesis of PE. Present study is aimed at investigating the association between MTRR c.66A > G, MTHFR c.677C > T, MTHFR c.1298A > C, and MTR c.2756A > G polymorphisms and PE in Iranian women. Methods: About 117 women with history of PE and 103 healthy women with a pregnancy not complicated by PE were selected. The genomic DNA was extracted from peripheral blood. Single-nucleotide polymorphisms were genotyped using Real-Time PCR. Results: There was a significant difference between MTHFR c.677C > T polymorphism with PE (p = 0.045). The frequency of C/T heterozygous genotypes were (58% vs. 36%) in the case and control groups, respectively. There were no statistically significant differences between other genetic polymorphisms. Conclusions: The results indicated that the MTHFR c.677C > T polymorphism may be associated with development of PE in Iranian women.

Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy.

Myofibrillar myopathies (MFMs) are rare genetic and slowly progressive neuromuscular disorders. Several pathogenic mutations have been reported in MFM-related genes including DES, CRYAB, MYOT, LDB3 or ZASP, FLNC, BAG3, FHL1 and DNAJB6. Although MFMs is commonly inherited in an autosomal dominant manner, the inheritance pattern and novel mutated genes are not thoroughly elucidated in some cases. Here, we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower limbs. His parents are second cousins. Hereditary Motor Sensory Neuropathy as initial genetic diagnosis was ruled out. Whole exome sequencing using NGS on Illumina HiSeq4000 platform was performed to identify the disease and possible mutated gene(s). Our data analysis identified a homozygous nonsense unreported c.C415T (p.R139X) variant on kyphoscoliosis peptidase (KY) gene (NM_178554: exon4). Sanger sequencing of this mutation has been performed for his other related family members. Sequencing and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease.

Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation.

Duchenne Muscular Dystrophy (DMD; MIM 310200) is one of the most common and severe type of hereditary muscular dystrophies. The disease is caused by mutations in the dystrophin gene. The dystrophin gene is associated with X-linked recessive Duchenne and Becker muscular dystrophy. This disease occurs almost exclusively in males. The clinical symptoms of muscle weakness usually begin at childhood. The main symptoms of this disorder are gradually muscular weakness. The affected patients have inability to standing up and walking. Death is usually due to respiratory infection or cardiomyopathy. In this article, we have reported the discovery of a new nonsense mutation that creates abnormal stop codon in the dystrophin gene. This mutation was detected using Next Generation Sequencing (NGS) technique. The subject was a 17-year-old male with muscular dystrophy that who was suspected of having DMD. He was referred to Hakim medical genetics center of Neyshabur, IRAN.