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Intellectual developmental disorder with autism and macrocephaly (IDDAM) can be caused by inherited CHD8 variants. Epigenetic and structural analyses help confirm pathogenicity of uncertain variants, aiding diagnosis.

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Molecular Biology

Background:

  • Intellectual developmental disorder with autism and macrocephaly (IDDAM) is a rare neurodevelopmental disorder.
  • It is characterized by intellectual disability, autism, macrocephaly, and tall stature.
  • Most IDDAM cases are linked to de novo pathogenic variants in the CHD8 gene.

Purpose of the Study:

  • To investigate a suspected case of IDDAM with atypical features in a female proband.
  • To evaluate the pathogenicity of an uncertain CHD8 variant using advanced molecular techniques.
  • To explore the role of parental inheritance in IDDAM.

Main Methods:

  • Genome sequencing was performed on a proband with atypical IDDAM features.
  • EpiSign DNA methylation analysis was used to assess variant pathogenicity.
  • Structural biology modeling was employed to predict the impact of the variant on protein structure.

Main Results:

  • A CHD8 variant was confirmed, inherited from the father who had subtle related traits.
  • EpiSign analysis confirmed pathogenicity through characteristic methylation patterns.
  • Structural biology analysis predicted significant protein destabilization.

Conclusions:

  • A paternally inherited CHD8 variant was identified as the cause of IDDAM in this case.
  • The study underscores the importance of considering parental inheritance in IDDAM diagnosis.
  • Epigenetic and structural biology analyses are valuable for reclassifying variants of uncertain significance (VUS).