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Related Concept Videos

RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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Comparing Copy Number Variations and SNPs

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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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Loss of Tumor Suppressor Gene Functions

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Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function.

Takashi Shibata1, Tomoyuki Akiyama2, Takuma Harasaki3

  • 1Department of Pediatric Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan. shibat-t@okayama-u.ac.jp.

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Summary

A rare SCN8A gene variant caused severe developmental and epileptic encephalopathy in a child. Functional splicing assays confirmed it as pathogenic, highlighting their importance for diagnosing SCN8A-related disorders.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Severe developmental and epileptic encephalopathies are debilitating neurological disorders.
  • SCN8A gene variants are increasingly recognized as a cause of these conditions.
  • Interpreting the pathogenicity of novel SCN8A variants can be challenging.

Purpose of the Study:

  • To investigate the pathogenicity of a rare SCN8A splice-site variant found in a child with severe developmental and epileptic encephalopathy.
  • To determine the functional impact of the identified SCN8A variant.
  • To emphasize the utility of splicing assays in variant interpretation.

Main Methods:

  • Clinical data analysis of a pediatric patient.
  • Genetic sequencing to identify the SCN8A variant.
  • Minigene assay to assess the splicing defect caused by the variant.

Main Results:

  • A rare SCN8A splice-site variant was identified in the affected child.
  • The minigene assay demonstrated aberrant splicing, confirming a loss-of-function mechanism.
  • Integrated evidence classified the SCN8A variant as pathogenic.

Conclusions:

  • The SCN8A splice-site variant is pathogenic and contributes to severe developmental and epileptic encephalopathy.
  • Splicing assays are crucial tools for elucidating the functional consequences of rare SCN8A variants.
  • This case highlights the importance of functional studies in diagnosing genetic epilepsy syndromes.