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Results of the search for rare mutations in the analysis of the entire sequence of the PAH gene
https://doi.org/10.25557/2073-7998.2022.10.43-45
Abstract
Phenylketonuria (PKU) is a common, autosomal recessive hereditary disorder of phenylalanine hydroxylase caused by pathogenic PAH gene variants. After routine genetic analysis methods were applied, approximately 2% of PKU patients were not diagnosed. In this study, the search of nucleotide replacements were performed in noncoding and regulatory regions of PAH gen via NGS.The variant c.706+521G>C was found deep in intron 6, which in silico predicted the effect on splicing of the PAH gene. Thereby this study supplements current knowledge of PAH genotypes and show that deep intronic analysis of PAH can genetically diagnose PKU.
About the Authors
N. V. Ryadninskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. A. Kuznetsova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Ryadninskaya N.V., Kuznetsova I.A., Ryzhkova O.P., Polyakov A.V. Results of the search for rare mutations in the analysis of the entire sequence of the PAH gene. Medical Genetics. 2022;21(10):43-45. (In Russ.) https://doi.org/10.25557/2073-7998.2022.10.43-45
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