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Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.

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Chromosomal rearrangements disrupting long non-coding RNAs (lncRNAs) may cause Mendelian disorders. This study identified 66 cases with such disruptions, highlighting lncRNAs as potential genetic causes for developmental disorders.

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Area of Science:

  • Genomics
  • Non-coding RNA Biology
  • Human Genetics

Background:

  • The non-protein-coding genome, particularly long non-coding RNAs (lncRNAs), is increasingly recognized for its role in Mendelian disorders.
  • Annotating pathogenic variants in lncRNAs is challenging due to their non-protein-coding nature.

Purpose of the Study:

  • To investigate whether chromosomal rearrangements disrupting lncRNAs are the genetic etiology for phenotypes in individuals with apparently balanced chromosomal abnormalities (BCAs).
  • To enhance the annotation of lncRNAs using genomic disruption data.

Main Methods:

  • Analysis of 279 cases with BCAs, focusing on 191 cases with simple BCAs (two breakpoints).
  • Identification of chromosomal rearrangements directly disrupting lncRNAs.
  • Clinical reporting and genetic analysis of affected individuals.

Main Results:

  • Sixty-six cases with chromosomal rearrangements directly disrupting lncRNAs were identified.
  • Two specific lncRNAs, MEF2C-AS1 and ENSG00000257522, were each disrupted in two unrelated cases.
  • Thirty cases showed disruptions solely in lncRNAs, suggesting their potential role in observed phenotypes.

Conclusions:

  • Chromosomal rearrangements disrupting lncRNAs can be a significant cause of Mendelian and developmental disorders.
  • This genomic approach is powerful for annotating lncRNA function and identifying disease-causing variants.