Pathogenicity prediction of PTS: c.۷۰C>G (p.H۲۴D) variant, identified recently in an Iranian PTPS patient
- سال انتشار: 1400
- محل انتشار: کنفرانس بین المللی ژنتیک و ژنومیکس انسانی
- کد COI اختصاصی: CHGGE01_370
- زبان مقاله: انگلیسی
- تعداد مشاهده: 57
نویسندگان
Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran
Student Research Committee, Kermanshah University of Medical Sciences, Kermanshah, Iran
چکیده
Backgrounds: BH۴ is known as an essential cofactor for phenylalanine hydroxylase enzyme(PAH). Genetic mutations occurred in the genes related to this cofactor, including PTS, may leadto hyper-phenylalaninemia (HPA). In the present study, we used multiple in silico tools topredict the pathogenicity of PTS: c.۷۰C> G (p.H۲۴D), a variant recently identified in an Iranianpatient with PTPS deficiency. Subsequently, it was classified based on ACMG-AMP guidelines.Materials and Methods: To predict the nature of deleterious or neutrality of PTS: c.۷۰C> G(p.H۲۴D), a total of ۱۰ in silico tools including: CADD, Mutation Taster, Polyphen-۲, I-Mutantdisease, PROVEAN, SIFT, SNPs&GO, FATHMM-XF, PhD-SNPg, and PANTHER PSEP wereused. To assign the ACMG-AMP criteria related to this variant, a literature search wasperformed in multiple online databases.Results: All predictive tools used in this study showed deleterious effects for PTS: c.۷۰C> G(p.H۲۴D) variant. Therefore, PP۳ criterion was applied for this variant. Two other criteriaincluding PM۲ and PP۴ were also assigned. Based on these observations, PTS: c.۷۰C> G(p.H۲۴D) was classified as a VUS variant.Conclusion: PTS: c.۷۰C> G (p.H۲۴D) has only recently been identified in an Iranian PTPSpatient in homozygous form and has not been reported in public mutational databases. Therefore,its classification as a VUS variant was not unexpected. Considering that so far only two studies,with a total sample size of ۶۰ cases, have been performed in the field of identifying PTS-genemutations among Iranian PTPS patients, it is possible that this variant will be seen again in Iranin the future.کلیدواژه ها
BH۴, PAH, hyper-phenylalaninemia (HPA)اطلاعات بیشتر در مورد COI
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