Autism spectrum disorder (ASD) is characterized by 3 core symptoms with impaired social communication, repetitive behavior, and/or restricted interests in early childhood. As a complex neurodevelopmental disorder (NDD), the phenotype and severity of autism are extremely heterogeneous. Genetic factors have a key role in the etiology of autism. In this study, we investigated an Azeri Turkish family with 2 ASD-affected individuals to identify probable ASD-causing variants. First, the affected individuals were karyotyped in order to exclude chromosomal abnormalities. Then, whole-exome sequencing was carried out in one affected sibling followed by cosegregation analysis for the candidate variants in the family. In addition, SNP genotyping was carried out in the patients to identify possible homozygosity regions. Both proband and sibling had a normal karyotype. We detected 3 possible causative variants in this family: c.5443G>A; p.Gly1815Ser, c.1027C>T; p.Arg343Trp, and c.382A>G; p.Lys128Glu, which are in the FBN1, TF, and PLOD2 genes, respectively. All of the variants cosegregated in the family, and SNP genotyping revealed that these 3 variants are located in the homozygosity regions. This family serves as an example of a multimodal polygenic risk for a complex developmental disorder. Of these 3 genes, confluence of the variants in FBN1 and PLOD2 may contribute to the autistic features of the patient in addition to skeletal problems. Our study highlights the genetic complexity and heterogeneity of NDDs such as autism. In other words, in some patients with ASD, multiple rare variants in different loci rather than a monogenic state may contribute to the development of phenotypes.
Breast cancer is one of the main factors in the mortality of Iranian women. A large rearrangement genome is observed in most genes, especially in BRCA1 / BRCA2 genes lacking small mutations in breast cancer. Therefore, methods are needed to detect one or more exon deletions or their duplication. Therefore, the aim of this study was to determine the change in the number of copies of ATM, BRCA1, CHEK2, PTEN, and P53 genes in women with breast cancer in the East Azarbaijan region by MLPA method. This research is a descriptive study that was conducted randomly among 150 Azeri women with breast cancer who were referred to Tabriz Nour Najat Hospital; sixteen healthy people were selected as control samples. Deletion and duplication of ATM, BRCA1, P53, CHEK2 and PTEN genes were investigated using the MLPA method. The results showed that there was no pathogenicity mutation in these five genes. Therefore, it can be said that a large rearrangement genome in the East Azarbaijan province is very unlikely to lead to breast cancer in the area.
Breast cancer is the most common cause of death among women in the world and in Iran. A number of risk factors for breast cancer development have been identified, among which the most important is positive family history. Alterations in different genes, including BRCA1, BRCA2, p53, CHEK2, PTEN, and ATM, also induce a predisposition for breast cancer. Among these changes, BRCA1 and BRCA2 alterations are the strongest drivers of breast cancer predisposition. This study was aimed at contributing to the development of appropriate methods for detecting genetic alterations, such as single or multiple exon deletions and amplifications, in the aforementioned genes. We used multiplex ligation-dependent probe amplification (MLPA) to determine genetic alterations in 150 female patients who hail from East Azerbaijan, Iran and suffer from familial breast cancer. Specifically, we investigated copy number changes in BRCA1, ATM, p53, CHEK2, and PTEN. MLPA results showed no remarkable mutations in the study population. Size coverage is a critical factor for MLPA to accurately detect potential mutations in familial breast cancer susceptibility genes.
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