Analysis on de novo mutations in PAH genes of the family with phenylalanine hydroxylase deficiency

doi:10.3969/j.issn.1004-583X.2022.05.010

Abstract

Abstract:

Objective To investigate the pathogenesis of a family with phenylalanine hydroxylase deficiency (PAHD) by detecting and analyzing the mutation sites of phenylalanine hydroxylase (PAH) genes of the family. Methods PAH genome sequencing and exon deletion or duplication analysis were performed in the venous blood of probands and their parents by the next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA). Results The proband was found to have one missense mutation and one splice deletion, namely c.630t > G in Exon 6 and c.61-1G > A in Exon 2, respectively, which were not reported in Human Gene Mutation Database (HGMD), and were determined as clinically unknown and suspected pathogenic variants in America College of Medical Genetics and Genomics (ACMG) guidelines. The two mutations were predicted to be harmful and unknown in prediction results of information software REVEL, and no abnormal copy number of exon of PAH gene was found in the exon deletion and duplication analysis on the proband by using MLPA. Conclusion Exon 6 c.630T > G and exon 2 c.61-1G > A of PAH gene may be pathogenic mutations of PAHD in the family.

Key words: phenylalanine hydroxylase, phenylketonurias, genes

CLC Number:

R272.1

Ma Cuixia, Feng Lulu, Li Lixin, Ma Qianqian, Li Yang, Feng Jizhen. Analysis on de novo mutations in PAH genes of the family with phenylalanine hydroxylase deficiency[J]. Clinical Focus, 2022, 37(5): 441-446.

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URL: https://huicui.hebmu.edu.cn/EN/10.3969/j.issn.1004-583X.2022.05.010

https://huicui.hebmu.edu.cn/EN/Y2022/V37/I5/441

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References 21

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