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September 5, 2025Clinical GeneticsOpen Access

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

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Authors

DAD. A. AkimovaНСНаталя СеменоваТМТ. Б. Миловидова

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Overview

Observational analysis identified a pathogenic PARN variant in a patient with dyskeratosis congenita, suggesting RNA studies can clarify genetic complexities.

Key Points

  • The study identifies a pathogenic PARN variant in a patient presenting atypical symptoms of dyskeratosis congenita.
  • Whole genome sequencing revealed a known and a novel intronic variant in the PARN gene, impacting RNA function.
  • Functional RNA analysis demonstrated significant alterations like exon 4 skipping due to the novel intronic variant.
  • These results underscore the importance of RNA studies in diagnosing complex genetic disorders.

Cite This Study

Akimova et al. (2025) studied this question.

synapsesocial.com/papers/68bb3d4e2b87ece8dc955aa6https://doi.org/10.1111/cge.70037
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Optical Genomic Mapping and Next‐Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting <i>PARN</i> Gene in Dyskeratosis Congenita2025
  2. 2Monoallelic PARN mutation presenting as pancytopenia, hepatic fibrosis and idiopathic pulmonary fibrosis2026
  3. 3Surviving Males With <scp> <i>PORCN</i> </scp> Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum2026
  4. 4Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation2026
  5. 5Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome ( <scp>SRPS</scp> ), <i>DYNC2I1</i> ‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing2026