As a multisystemic congenital mental retardation disorder/anomaly, Smith–Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for the retinoic acid-induced 1 (RAI1) gene. In this article, we present three cases, who were diagnosed with SMS with mental retardation and behavioral problems such as self-hugging and sleeping disturbances. During the evaluation of the patients, it has been found that there was a 3.4-Mb deletion in the 17p11.2 chromosome region of these patients. This deletion includes RAI1 that is a critically involved gene in SMS.

Warburg micro (WARBM) syndrome is an autosomal recessive disease characterized by severe brain and eye abnormalities. Loss-of-function mutations in RAB18, RAB3GAP2, RAB3GAP1, or TBC1D20 can lead to this disease. Here, we present two unrelated WARBM syndrome patients who had an RAB3GAP1 c.559 C > T, (p.Arg187Ter) and c.520 C > T (p.Arg174Ter) homozygous state. Both patients had microcephaly, microphthalmia, microcornea, bilateral congenital cataracts, severe intellectual disability, and congenital hypotonia. Using the method of next-generation sequencing and sanger sequencing, we found two nonsense variations at the splice site in exon 7 of RAB3GAP1 in the WARBM syndrome patients. The mutations were predicted to cause the syndrome due to the early stop codon, and the patients had the WARBM1 syndrome. We present the first clinical report of two different unreported variants with RAB3GAP1 mutation in the literature.

Objective: MicroRNAs (miRNAs) have emerged as promising biomarkers for diagnosis and prognosis in laryngeal squamous cell carcinoma (LSCC). This study investigates the expression patterns of specific cancer-associated miRNAs in early and advanced stage LSCC to evaluate their potential role in disease progression. Methods: The expression levels of miRNA-21, miRNA-802, miRNA-29 and miRNA-9 were analysed in formalin-fixed paraffin-embedded (FFPE) tissues from 44 LSCC patients (20 early stage, 24 advanced stage) using quantitative multiplex RT-PCR. Tissue samples were analysed retrospectively. Results: The expression level of hsa-miR-9a expression was significantly upregulated (5.2-fold) in advanced stage patients compared to the early stage group (p = 0.0088). Similarly, hsa-miR-802a showed significantly higher expression (9.2-fold) in advanced stage patients compared to early stage patients (p = 0.005). No significant differences in miRNA-21 and miRNA-29 expression levels were observed between the groups. Conclusion: As a result of the study, elevated miRNA levels in advanced stage patients can be used in targeted therapy and evaluated as a treatment option in LSCC patients.

Introduction: Whole‐exome sequencing (WES) is considered an important tool in investigating the etiology of developmental delay/intellectual disability (DD/ID) and epilepsy. Genetic diagnosis with WES has become an important tool in patients with DD/ID and epilepsy. Methods: In this study, we present the findings of WES conducted between August 2021 and December 2024 on children with DD/ID and epilepsy. We evaluated clinically important variants identified by WES in 65 pediatric patients by retrospective analysis. Results: Sixty‐five patients with DD/ID were included in the study, 34 of whom (52.3%) were male. The most common symptom was epilepsy (45 patients, 69.2%), and the second most common symptom was DD/ID in 39 patients (60%). A total of 19 pathogenic/likely pathogenic variants (31.2%) with confirmation made in the parents and probands, 9 variants were determined to be de novo. In this study, the number of patients diagnosed was determined as 19 (31.2%). We detected a de novo likely pathogenic heterozygous c.142 T>C (p.Cys48Arg) variant in the BCL11A gene in the first reported Turkish patient with BCL11A‐related intellectual disability. Other previously unreported de novo variants identified: ASXL3 gene, NM_030632.2 c.3613G>T p.(Glu1205Ter), ANKRD11 gene, NM_001256182.2 c.4750G>T, SHANK3 gene, NM_001372044.2 c.4711_4712del. Conclusion: The cases we present contribute to the expansion of the spectrum of genetic variants in genetically heterogeneous patient groups such as DD/ID and epilepsy. These previously unreported variants advance our molecular understanding and broaden the clinical spectrum of these rare genetic disorders.

COVID-19 is an inflammatory disease characterized by a severe immune response, the pathogenesis of which is mediated by many cytokines. It was determined that the cytokine storm that occurs during severe infection may trigger coagulopathy by disrupting the interaction between platelets, endothelium, and leukocytes. Selectins (P-SELECTIN, L-SELECTIN, E-SELECTIN) are active in the mammalian immune system, especially in tissues. They are important adhesion molecules that play a part in the formation of the inflammatory response and the healing process. In this study, the probable effects of L-SELECTIN, P-SELECTIN, and E-SELECTIN gene variations on the pathogenesis of COVID-19 (on the severity and course of the disease) were investigated. In this direction, 44 controls and 129 patients (45 mild symptoms, 30 ward patients, and 54 intensive care patients) were included in the study. Genotyping of selectin polymorphisms was performed by the PCR-Restriction Fragment-Length Polymorphism (RFLP) techniques. In E-SELECTIN, CC genotype and C allele frequency were higher in inpatients than in the control group. The allele frequency and AA genotype were higher in the control group (p = 0.0001). No significant relationship was detected with P-SELECTIN and L-SELECTIN polymorphisms. In addition, the binary genotype distribution between the loci studied in our study and the control groups was also examined. Statistically significant differences were detected in P-SELECTIN/E-SELECTIN and E-SELECTIN/L-SELECTIN binary genotypes. Therefore, it was concluded that binary genotypes may affect disease severity or the course of the disease.