The pathogenicity prediction of QDPR: c.۳۴۴C>T (p.Ser۱۱۵Leu) variant

Pathogenic variants in five genes involved in biosynthesis and regeneration of tetrahydrobiopterin (BH۴) may lead to hyperphenylalaninemia (HPA). DHPRdeficiency, as one of the disorders in this group, is caused by defects in the quinoid dihydropteridine reductase (QDPR) gene [۱]. To now, about ۱۵۰ QDPR gene variants have been recorded in PND database (available at http://www.biopku.org).Recent studies performed in Iran detected some novel QDPR gene variants among Iranian patients with DHPR deficiency, including QDPR: c.۳۴۴C>T (p.Ser۱۱۵Leu) variant. To predict the deleterious effects of QDPR: c.۳۴۴C>T (p.Ser۱۱۵Leu) variant, in this study we used ten in silico tools. Our results showed deleterious effects for this variant in all ten prediction tools. conclusion, with a threshold of deleterious effects in seven or more in silico predictive tools, QDPR: c.۳۴۴C>T (p.Ser۱۱۵Leu) variant could be accepted as a pathogenicvariant. However, for its final classification, it is necessary to consider the other criteria provided by American College of MedicalGenetics and Genomics (ACMG-AMP) guidelines [۴]

کلیدواژه ها:

DHPR deficiency ، QDPR gene ، in silico analysis