Genetic Analysis of Gene in Iranian Patients with Rett Syndrome.

Objectives: Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in gene, which is a nuclear protein that selectively binds CpG dinucleotides in the genome.

Materials & Methods: To provide further insights into the distribution of mutations in gene, we investigated 24 females with clinical characters of Rett syndrome referred to Alzahra University Hospital in Isfahan, Iran during 2015-2017.

Genomic rearrangement screening of the from seventy Iranian high-risk breast cancer families.

Background: The second leading cause of cancer deaths in women is breast cancer. Germline mutations in susceptibility breast cancer gene increase the lifetime risk of breast cancer. Eighty-one large genomic rearrangements (LGRs) have been reported up to date in gene, and evaluation of these rearrangements helps with precise risk assessment in high-risk individuals.

Structural and functional impact of missense mutations in TPMT: An integrated computational approach.

Background: Thiopurine S-methyltransferase (TPMT) detoxifies thiopurine drugs which are used for treatment of various diseases including inflammatory bowel disease (IBD), and hematological malignancies. Individual variation in TPMT activity results from mutations in TPMT gene. In this study, the effects of all the known missense mutations in TPMT enzyme were studied at the sequence and structural level

Methods: A broad set of bioinformatic tools was used to assess all the known missense mutations affecting enzyme activity.

Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.

Objective: To identify the spectrum of mutations in connexin 26 gene and frequency of two deletions in connexin 30 gene in central Iran.

Methods: After extraction of DNA from 300 blood samples, connexin 26 gene coding region was amplified using specific primers. PCR products were used for bidirectional sequencing.

A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.

Objective: To investigate mutations in GJB2 in a consanguineous Iranian family with multiple members affected by non-syndromic hearing loss.

Methods: DNA was extracted from blood samples and the coding region of the conexin 26 gene was amplified using PCR. Bidirectional sequencing was carried out on PCR products.

Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset.

Background: The Duchenne muscular dystrophy (DMD) gene is located in the short arm of the X chromosome (Xp21). It spans 2.4 Mb of the human genomic DNA and is composed of 79 exons.

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

Proximal spinal muscular atrophy is an autosomal recessive disorder characterized by symmetrical muscle weakness due to degeneration of alpha motor neurons in the spinal cord. Homozygous deletions in the SMN1 have been reported in more than 90% of spinal muscular atrophy cases. Compound heterozygous patients account for approximately 4% of spinal muscular atrophy cases.

Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries.

DMD gene which is composed of 79 exons is the largest known gene located on X chromosome (Xp21). Point mutations in the dystrophin gene are responsible for 30-35% of cases with DMD/BMD. Mutation analysis of all the exons of the DMD gene is costly in developing countries, therefore, a few of the exons are selected to be analyzed routinely in clinical laboratories.