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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Gazelle Zerafati-Jahromi1, Elias Oxman2, Hieu D Hoang3

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American Journal of Human Genetics
|January 29, 2025
PubMed
Summary
This summary is machine-generated.

HECTD1 gene variants are linked to neurodevelopmental disorders like autism and epilepsy. Mouse models show HECTD1 is crucial for embryonic brain development, supporting its role in human brain formation.

Keywords:
HECTD1autismepilepsyneurodevelopmental disordersubiquitin-proteasome system

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Dysregulation of HECT E3 ubiquitin ligases is implicated in cancer and birth defects.
  • HECT-domain-containing protein 1 (HECTD1) plays a role in developmental pathways like embryogenesis and cell signaling.

Purpose of the Study:

  • To investigate the role of HECTD1 in human neurodevelopmental disorders (NDDs).
  • To identify genetic variants in HECTD1 associated with NDDs and understand their functional impact.

Main Methods:

  • GeneMatcher identified individuals with HECTD1 variants and NDDs.
  • Analysis of variant inheritance patterns (de novo, compound heterozygous).
  • Conditional knockout of Hectd1 in mouse neural lineages and functional studies in C. elegans.

Main Results:

  • 14 individuals with 15 HECTD1 variants (missense, frameshift, nonsense, splicing) were identified with NDDs.
  • Mouse models exhibited microcephaly and severe brain malformations upon Hectd1 knockout.
  • Functional studies indicated dominant or loss-of-function mechanisms for HECTD1 variants.

Conclusions:

  • HECTD1 is essential for human brain development.
  • HECTD1 variants contribute to a spectrum of neurodevelopmental disorders.
  • Further research into HECTD1's role in embryogenesis is warranted.