Pathogenicity prediction of PTS: c.۷۰C>G (p.H۲۴D) variant, identified recently in an Iranian PTPS patient

سال انتشار: 1400
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 46

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شناسه ملی سند علمی:

CHGGE01_370

تاریخ نمایه سازی: 13 مهر 1401

چکیده مقاله:

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.

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نویسندگان

Keivan Moradi

Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran

Sahand Khamooshian

Student Research Committee, Kermanshah University of Medical Sciences, Kermanshah, Iran