Novel Single Base Pair Deletion in ATM Cause Ataxia Telangiectasia in an Iranian Proband

Ataxia-telangiectasia is a rare disorder with neurological manifestations and caused by mutations in ATM gene. This gene produce a serine/threonine protein kinase, an activator of the DNA damage response in the face of DNA DSBs, which phosphorylates downstream substrates integrating with DNA repair procedure. Most ATM mutations are private mutations and, there is no mutational hotspots in the ATM gene. We unveiled a new mutation in this gene in an 8 years old A-T patient. This mutation led to fundamental alterations in ATM protein structure and representation of AT lastly.

miR-31 and miR-145 as potential non-invasive regulatory biomarkers in patients with endometriosis

Objective Endometriosis is a prevalent gynecologic disease affecting 10% of women in reproductive age. Endometriosis is diagnosed by laparoscopy that was followed by histologic confirmation. Early diagnosis will lead to a more effective treatment with much less morbidity. As miR-31 and miR-145 are shown to be directly or indirectly correlated to biological processes involved in endometriosis, the aim of this study was to examine the association of miR-31 and miR-145 expression in plasma with the presence of endometriosis. Materials and Methods In this case control study, the plasma samples of 55 patients with endometriosis and 23 women without endometriosis were collected, extracted and analyzed by real time quantitative polymerase chain reaction (qPCR) for the expression of miR-145 and miR-31. Results Our findings showed that miR-31 expression levels in stage 3 or 4 and stage 1 or 2 were significantly down- regulated (less than 0.01-fold, P<0.05), while the expression level of miR-145 was significantly up-regulated in women with endometriosis in stage 1 or 2. Conclusion Different cellular biological processes, such as differentiation, proliferation, mitochondrial function, reactive oxygen species (ROS) production, invasion and decidualization, are deregulated in endometriosis. miR-31 and miR-145 are microRNAs (miRNAs) with potential roles, as shown in pathologies like cancers. We found that miR- 31 was under-expressed in patients with endometriosis, while miR-145 was over-expressed in stage 1 or 2, indicating that they were relatively down-regulated in the more severe forms. Our findings suggested that these two miRNAs may be considered as potential biomarkers with probable implications in early diagnosis and even follow-up of patients with endometriosis

Kleefstra Syndrome: The First Case Report From Iran

Kleefstra Syndrome is characterized by severe mental retardation, brachycephaly, microcephaly, epileptic seizures, distinct facial features, and infantile weak muscle tone and heart defects. Deletion of EHMT1 is the main player in 75% of cases. Because of blurriness in genotype-phenotype correlation through clinical and molecular features of both 9q34.3 microdeletion patients and those with an intragenic EHMT1 mutation in Kleefstra Syndrome, genetic characterization of patients with clinical symptoms of such spectrum is desirable. We report the first Kleefstra Syndrome patient in Iran characterized through genetic approaches. Our report could improve KS diagnosis in Iran and prepare PND and PGs options for involved families

Another Novel Missense Mutation in ARSB Gene in Iran

Mucopolysaccharidosis VI (MPS-VI) is an infrequent autosomal recessive disorder caused by mutations in ARSB gene and deficiency in lysosomal enzyyme ARSB activities subsequently. This enzyme is essential for the breaking of glycosaminoglycans (GAGs) such as dermatan sulfate and chondroitin sulfate. ARSB dysfunction results in imperfect breakdown of GAGs and their accumulation in urine. Mutations in ARSB gene are the main players in MPS-VI disease and its clinical consequences. Most reported mutations are point mutations but there are some other examples in literature. Here we report a novel missense mutation in ARSB gene that is inherited as an autosomal recessive mode and probably explain the clinical status of the proband. This mutation replaces the threonine 92 by proline and alters ARSB structure. This is the most feasible scenario for clinical condition we described here. This novel mutation should be remarked for PND and PGD to improve the health and management of such families