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Comparing Copy Number Variations and SNPs02:26

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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.
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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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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.

Barbara W van Paassen1, Camiel Verhamme2, Fred van Ruissen3

  • 1Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.

Neurology. Genetics
|November 24, 2025
PubMed
Summary
This summary is machine-generated.

Additional genetic variants do not explain most Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) severity. Genetic screening is recommended for severe CMT1A cases with confirmed PMP22 alterations.

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) exhibit significant phenotypic variation.
  • The genetic underpinnings of this variability, particularly in severe cases, require further investigation.

Purpose of the Study:

  • To determine if additional pathogenic coding variants in neuropathy-related genes contribute to the phenotypic spectrum of CMT1A and HNPP.
  • To assess the necessity of expanded genetic screening in patients with these inherited neuropathies.

Main Methods:

  • Cross-sectional study of 742 genetically confirmed CMT1A and HNPP patients.
  • Selection of patients at the extremes of the disease spectrum based on the Overall Neuropathy Limitation Scale (ONLS).
  • Next-generation sequencing of 177 neuropathy-related genes in a cohort of 94 patients (20 mild CMT1A, 24 severe CMT1A, 25 mild HNPP, 25 severe HNPP).

Main Results:

  • One additional autosomal dominant pathogenic variant in the MFN2 gene was found in a severe CMT1A case.
  • Heterozygous pathogenic variants in autosomal recessive neuropathy-related genes were identified in two severe CMT1A and two mild HNPP patients.
  • No significant contribution of additional pathogenic coding variants to disease severity was observed in the majority of patients.

Conclusions:

  • Additional pathogenic coding variants in neuropathy-related genes are not the primary driver of disease severity variation in most CMT1A and HNPP patients.
  • In cases with confirmed PMP22 copy-number alterations, genetic screening for additional CMT-related pathogenic variants is primarily indicated for severe cases.