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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...
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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.
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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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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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A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.

Mackenna E Schouw1,2, Claudia A L Ruivenkamp1, Tamara T Koopmann1

  • 1Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

American Journal of Medical Genetics. Part A
|December 23, 2024
PubMed
Summary

Recurrent lethal Osteogenesis Imperfecta (OI) in two fetuses was linked to parental mosaicism for a deep intronic COL1A1 variant. This genetic finding underscores the need for comprehensive analysis in suspected OI cases.

Keywords:
COL1A1case reportdeep intronic splicing variantslethal osteogenesis imperfecta

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Osteogenesis Imperfecta (OI) is a rare genetic disorder characterized by bone fragility and fractures, often caused by mutations in collagen genes.
  • Type II OI represents the most severe form, leading to perinatal lethality.

Observation:

  • Two fetuses presented with recurrent perinatal lethal OI.
  • Parental mosaicism for a deep intronic variant (c.2451+77C>T) in intron 35 of the COL1A1 gene was identified.

Findings:

  • The deep intronic variant induced aberrant splicing, resulting in a 75-nucleotide in-frame addition to the mRNA.
  • This molecular alteration disrupts type I collagen production, consistent with severe OI.

Implications:

  • Deep intronic variants in collagen genes should be considered in the genetic diagnosis of OI, especially in severe or recurrent cases.
  • Conventional genetic testing may miss these variants, necessitating advanced molecular analysis for accurate diagnosis and genetic counseling.