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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.
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Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Donald R Latner1, Susan M Hiatt1, Candice R Finnila1

  • 1HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.

American Journal of Medical Genetics. Part A
|July 16, 2026
PubMed
Summary

Developmental and epileptic encephalopathy 73 (DEE73) is a severe neurodevelopmental disorder caused by RNF13 gene variants. This study expands the phenotype and identifies a critical protein region intolerant to truncating variations.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Molecular Biology

Background:

  • Developmental and epileptic encephalopathy 73 (DEE73) is a severe autosomal dominant neurodevelopmental disorder.
  • It is associated with pathogenic variants in the RING finger protein 13 (RNF13) gene, which encodes a transmembrane E3 ubiquitin ligase.
  • The known phenotype includes microcephaly, seizures, intellectual disability, developmental delay, speech and movement limitations, cortical blindness, and skeletal defects.

Purpose of the Study:

  • To support and broaden the understanding of DEE73 by reporting on an additional 13 affected individuals.
  • To further define the RNF13 gene's critical regions that are intolerant to variation.
  • To characterize the phenotypic spectrum associated with RNF13 variants.

Main Methods:

  • Case series analysis of 13 individuals with RNF13 variants.
  • Genetic variant analysis (missense and truncating).
  • Phenotypic correlation with identified genetic variants.

Main Results:

  • This study identified 13 additional individuals with RNF13 variants (2 missense, 11 truncating).
  • The findings support and expand the previously described phenotype of DEE73.
  • A narrow, critical region of the RNF13 protein intolerant to truncating variation was defined.

Conclusions:

  • Pathogenic variants in RNF13 cause DEE73, a severe neurodevelopmental disorder with a broad phenotype.
  • The study refines the understanding of genotype-phenotype correlations within the RNF13 gene.
  • Identifying critical regions intolerant to variation aids in understanding disease mechanisms and genetic counseling.