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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

Cosima M Schmid1, Anne Gregor2, Gregory Costain3

  • 1Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland; Department for Biomedical Research, University of Bern, Bern, Switzerland.

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Summary
This summary is machine-generated.

Mutations in the LHX2 gene are linked to neurodevelopmental disorders (NDDs). This study identifies LHX2 variants causing NDDs through loss-of-function mechanisms, highlighting its crucial role in brain development.

Keywords:
ASDIntellectual disabilityLHX2MicrocephalyNDDNeurodevelopmental disorder

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • The LIM homeobox 2 (LHX2) transcription factor is crucial for brain development but its role in neurodevelopmental disorders (NDDs) remains unclear.
  • LHX2 is highly expressed in the brain and conserved across species.

Purpose of the Study:

  • To investigate the link between LHX2 variants and neurodevelopmental disorders (NDDs).
  • To elucidate the functional consequences of identified LHX2 variants.

Main Methods:

  • International collaborative study identifying individuals with chromosomal deletions or LHX2 variants.
  • Functional analysis of missense variants in cellular systems, including assessing protein localization, co-factor interaction, and transcriptional activity.

Main Results:

  • Nineteen individuals from 18 families with variable neurodevelopmental phenotypes and LHX2 alterations were identified.
  • Phenotypes included developmental and behavioral abnormalities, autism spectrum disorder, intellectual disability, and microcephaly.
  • Functional studies revealed impaired LHX2 protein function, including altered localization, disrupted LDB1 interaction, and reduced transcriptional activation.

Conclusions:

  • LHX2 haploinsufficiency due to deletions or gene-disrupting variants causes variable NDDs.
  • Pathogenic LHX2 missense variants likely act through a loss-of-function mechanism.
  • LHX2 is essential for nervous system development and its dysfunction leads to diverse neurodevelopmental phenotypes.