Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms

Genome Med. 2021 Jun 7;13(1):99. doi: 10.1186/s13073-021-00913-y.

Abstract

High-throughput sequencing of large affected cohorts have helped uncover a plethora of risk genes for complex neurodevelopmental disorders. However, untangling complex disease etiology also involves understanding the functional consequences of these mutations in order to connect risk variants to resulting phenotypes. Here, we highlight the efforts of Mannucci and colleagues to define a novel molecular subtype of neurodevelopmental disorder associated with mutations in DHX30 and characterize location-specific mutational effects in cell culture and zebrafish models.

Keywords: Alleles; Autism; Molecular subtypes; Neurodevelopmental disorders; Stress granules.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles*
  • Biomarkers
  • Computational Biology / methods
  • Databases, Genetic
  • Genetic Association Studies
  • Genetic Heterogeneity
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study / methods
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Neurodevelopmental Disorders / diagnosis
  • Neurodevelopmental Disorders / genetics*
  • Neurogenesis / genetics*
  • Phenotype

Substances

  • Biomarkers