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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Linyan Meng1,2, Pirjo Isohanni3,4, Yunru Shao1,5,6

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Annals of Neurology
|January 14, 2021
PubMed

Insights

Genetic variants in MED27 cause a new neurodevelopmental syndrome. This research highlights MED27

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • The Mediator complex is crucial for gene transcription regulation by RNA polymerase II.
  • Understanding the genetic basis of neurodevelopmental disorders is essential for diagnosis and treatment.

Purpose of the Study:

  • To identify the genetic cause of a novel neurodevelopmental syndrome.
  • To elucidate the role of MED27 in human neural development.

Main Methods:

  • Exome sequencing was performed on patients from multiple families presenting with a similar neurodevelopmental phenotype.
  • Biallelic variants in the MED27 gene were identified and analyzed.

Main Results:

  • Sixteen patients from 11 families were found to have biallelic putative disease-causing variants in MED27.
  • The identified patients exhibited a homogeneous phenotype including global developmental delay, intellectual disability, hypotonia, spasticity, dystonia, and cerebellar hypoplasia.
  • Severe cases presented with seizures and cataracts.

Conclusions:

  • Biallelic MED27 variants are responsible for a novel neurodevelopmental syndrome.
  • MED27 is critical for normal human neural development, with a particular emphasis on cerebellar formation and function.

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