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[Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase

Peiying Yang1, Yun Sun, Xin Wang

  • 1Genetic Medicine Center, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University (Nanjing Maternal and Child Health Care Hospital), Nanjing, Jiangsu 210004, China. jiangtao6310@126.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|March 6, 2024
PubMed

Insights

The c.158G>A variant in the phenylalanine hydroxylase (PAH) gene is associated with mild hyperphenylalaninemia (HPA) and is likely benign. Its impact on PAH deficiency phenotype depends on other co-occurring pathogenic variants.

Area of Science:

  • Genetics
  • Biochemistry
  • Medical Science

Context:

  • Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are genetic disorders caused by mutations in the phenylalanine hydroxylase (PAH) gene.
  • Understanding the pathogenicity of specific PAH variants is crucial for accurate diagnosis and management.

Purpose:

  • To investigate the pathogenicity and genotype-phenotype correlation of the c.158G>A variant in the PAH gene.
  • To determine the clinical significance of the c.158G>A variant in patients with PAH deficiency.

Summary:

  • Retrospective analysis of 37 children with PAH deficiency revealed that the c.158G>A variant is associated with mild HPA.
  • This variant, often found in compound heterozygous or homozygous states, has minimal impact on PAH activity and is classified as likely benign.
  • The ultimate phenotype in patients with the c.158G>A variant is primarily determined by the presence and pathogenicity of other co-existing PAH variants.

Impact:

  • Classifying the c.158G>A variant as likely benign aids in the genetic diagnosis of PAH deficiency.
  • This finding refines genotype-phenotype correlations, improving the understanding of PKU and HPA.
  • Provides valuable information for genetic counseling and personalized treatment strategies for patients with PAH deficiency.
Abstract

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