Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis

Background:CTX is a rare congenital lipid-storage disorder, leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Chronic diarrhea, tendon xanthomas, neurologic impairment, and bilateral cataracts are common symptoms of the disease. Methods:Three affected siblings with an initial diagnosis of non-syndromic intellectual disability were recruited for further molecular investigations. To identify the possible genetic cause(s), WES was performed on the proband. Sanger sequencing was applied to confirm the final variant. The clinical and molecular genetic features of the three siblings from the new CTX family and other patients with the same mutations, as previously reported, were analyzed. The CYP27A1 gene was also studied for the number of pathogenic variants and their location. Results:We found a homozygous splicing mutation, {"type":"entrez-nucleotide","attrs":{"text":"NM_000784","term_id":"1519312912"}}NM_000784: exon6: c.1184+1G>A, in CYP27A1 gene, which was confirmed by Sanger sequencing. Among the detected pathogenic variants, the splice site mutation had the highest prevalence, and the mutations were mostly found in exon 4. Conclusion:This study is the first to report the c.1184+1G>A mutation in Iran. Our findings highlight the other feature of the disease, which is the lack of relationship between phenotype and genotype. Due to nonspecific symptoms and delay in diagnosis, CYP27A1 genetic analysis should be the definitive method for CTX diagnosis. Key Words: Cerebrotendinous xanthomatosis, CYP27A1, Intellectual disability, Iran, Whole exome sequencing     

Effects of dietary fish oil substitution with mixed vegetable oils on growth and fillet fatty acid composition of juvenile Caspian great sturgeon (Huso huso)

The objective of this study was to determine the effects of fish oil replacement with dietary vegetable oils on growth performance, chemical composition and fatty acids profiles in fillets of farmed Caspian great sturgeon juveniles Huso huso (26.97 ± 0.49 g). Five isonitrogenous and isolipidic diets were formulated, containing 10 % of added oil. The diet with 100 % kilka fish oil (Caspian tyulka, Clupeonella caspia) was the control. Fish oil was substituted by 50 % of vegetable oils consisting of an equal share of sunflower and soybean oils (diet A), sunflower and canola oils (diet B) and soybean and canola oils (diet C). In diet D, 100 % of fish oil was replaced with vegetable oil (1:1:1 ratio of sunflower oil, soybean oil and canola oil). Significant differences (P > 0.05) were not detected during 60 days feeding trial in final body weight, weight gain, condition factor, specific growth rate, feed conversion rate, protein efficiency ratio and the chemical composition of fillet (crude protein, crude lipid, moisture and ash). Generally, the fatty acids composition of fish fillets was reflective of the dietary lipid sources. These results indicate the feasibility of substituting fish oils with the mixture of vegetable oils in diets of juvenile H. huso without negative influence on growth providing optimum ratios of n-3/n-6 and n-3/18:1n-9 is met in the diet.     

Molecular characterization of a pigeon paramyxovirus type 1 virus isolated from Eurasian collared doves in Iran, 2017

In September 2017, an outbreak with high mortality, which showed the typical signs of ND, occurred among a flock of more than 2000 Eurasian collared doves in Konarak, southeast of Iran. A confirmed pigeon paramyxovirus type 1 strain was isolated from the brain tissues of the dead doves. The isolate, which was called Pigeon/Iran/Konarak/Barin/2017, was classified as a highly velogenic NDV. Complete genome sequencing and phylogenetic analysis showed that the isolate belonged to subgenotype XXI.2, which has never been reported from Iran before. The isolate had the highest homology (96.15%) with early 2010s Italian isolates. Further studies will be required to understand the diversity better.