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Updated: Jun 6, 2025

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新型CNTNAP1基因变异在先天性低髓性神经病变-3中被发现:一个病例报告

Helen Wang1,2, Dillon Chen1, Miguel Del Campo1

  • 1University of California, San Diego, La Jolla, CA, USA.

SAGE open medical case reports
|November 25, 2024
PubMed
概括

接触素相关蛋白1 (CNTNAP1) 基因的新型突变导致婴儿患有先天性低髓性神经病变 (CHN3). 这种病例显示出新生儿呼吸困难的罕见原因和不同的临床结果.

关键词:
接触因相关蛋白 (CNTNAP1) 是一种接触因相关蛋白.遗传性低血质神经病变 (CHN) 是一种先天性低血质神经病变.新生儿科学 新生儿科学神经学 神经学 神经学

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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