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Related Concept Videos

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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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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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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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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.

Yue Zheng1, Yue Du1, Yubin Wu1

  • 1Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.

Molecular Genetics & Genomic Medicine
|October 25, 2023
PubMed
Summary

COPA syndrome, a rare genetic disorder, was identified in a child with arthritis and vasculitis. A novel COPA gene mutation was found, expanding knowledge of this condition.

Keywords:
ANCA-associated vasculitisCOPA syndromearthritisnovel gene variant

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Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • COPA syndrome is a rare, autosomal dominant monogenic disease caused by COPA gene mutations.
  • It presents with inflammatory lung, joint, and kidney disease, potentially linked to autophagy and type I interferon pathways.
  • Only 59 cases have been reported globally.

Observation:

  • A 5-year-old girl presented with arthritis, ANCA-associated vasculitis, and kidney decline, with minimal lung issues.
  • Trio-whole exome sequencing identified a novel heterozygous mutation in the COPA gene (c.679C>T, p.Arg227Cys).
  • This mutation was maternally inherited, though the mother showed no symptoms.

Findings:

  • A novel likely pathogenic heterozygous variation in the COPA gene was identified in a pediatric patient.
  • The identified mutation (c.679C>T, p.Arg227Cys) expands the known genetic spectrum of COPA syndrome.
  • The case highlights a distinct clinical presentation with prominent vasculitis and renal involvement.

Implications:

  • This finding expands the genotypic spectrum of COPA syndrome.
  • It provides crucial reference data for future clinical diagnosis and treatment strategies.
  • Understanding genotype-phenotype correlations in COPA syndrome is essential for effective management.