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Updated: Jul 11, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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帕斯2的新突变揭示了发育性和性脑病变的高度可变的表型-75

Xuyun Hu1, Ruolan Guo1, Chanjuan Hao1

  • 1Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, PR China.

Gene
|November 13, 2023
PubMed
概括

这项研究在三名患有严重智力障碍的患者中发现了两种新的线粒体prolyl-tRNA合成酶2 (PARS2) 变体. 这些发现扩大了已知的PARS2突变和发育性和性脑病变的临床和遗传谱-75.

关键词:
发育性和性脑病变,发育性和性脑病变.智力障碍 智力障碍是一种智力障碍.线粒体tRNA合成酶的作用卵巢功能障碍 卵巢功能障碍在PARS2基因中.

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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