Introduction: Argininemia is an autosomal recessive uncommon metabolic condition, caused by mutations in arginase enzyme. Variable clinical symptoms of argininemia might bring about a delayed diagnosis. In order to prove an argininemia condition, a genetic test result is needed. This study aims to describe two cases of argininemia homozygote mutations. Materials and Methods: Whole exome sequencing (WES) was utilized to detect disease causing variants. To prove adverse impacts of a novel variant and in silico analysis, PROVEAN web server is chosen. The effects of the novel mutation on the enzyme’s structure are shown in Chimera software using normal and mutated structures derived from SWISS model web server. Result: WES revealed two cases of autosomal recessive hyperargininemia. In one of the patients, a homozygous missense mutation of c.491G>A was detected, which is a novel ARG1 variant (p.Trp164Ter). Bioinformatics databases and the variant’s protein structure proved its deleterious effect on the enzyme’s function. The other patient was affected by a reported mutation of c.703G>A (p.G235R). Conclusion: The presence of various types of neurological and metabolic disorders with the same clinical findings with argininemia might lead to a lack of early diagnosis for beginning efficacious treatments. WES provides these patients with the opportunity to become diagnosed and receive therapies as early as possible.
Regarding the variety of symptoms experienced by breast cancer (BC) patients and the unknown etiology of the disease, the identification of a prognostic marker can effectively help in the early detection and treatment of BC. Using bioinformatic research, the prognostic value of the chromodomain helicase DNA-binding family (CHD) was assessed in BC detection. All nine members of this gene family are chromatin regulators. Changes in chromatin compression and access to cellular machinery are associated with CHD proteins. These proteins are involved in cell proliferation and transcription as well as DNA damage repair. This gene family plays a decisive role in cancer development. Our UALCAN investigation indicated substantial downregulation of CHD2 and CHD9 in tumor tissues. Large mRNA expression of CHD2 and CHD8 has been also linked to superior OS and RFS, according to Kaplan-Miere curves. Moreover, a higher SBR grade was associated with lower CHD2, CHD8, CHD9, and CHD7 mRNA levels, while a lower SBR grade was linked to higher CHD7 mRNA levels. Based on the clinic-pathological findings, the mRNA levels of CHD2, CHD8, and CHD9 were lower in ER-negative, PR-negative, triple-negative, and basal-like BC, while CHD7 was higher. CHD2, CHD7, CHD8, and CHD9 mutations were detected in 8%, 15%, 7%, and 11% of BC patients, respectively, according to genetic alteration analyses in the cBioportal database. TIMER also found a link between CHD2, CHD8, and CHD9 and the infiltration of CD8+ T cells, neutrophils, and macrophages. These findings suggest CHD2, CHD7, CHD8, and CHD9 genes as promising breast cancer prognostic markers.
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