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The clinical presentation caused by truncating CHD8 variants.

Sofia Douzgou1,2, Hui Wen Liang2, Kay Metcalfe1,2

  • 1Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

Clinical Genetics
|April 20, 2019
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Summary

Chromodomain helicase DNA-binding protein 8 (CHD8) variants cause overgrowth and intellectual disability (OGID) syndrome. This study details common features in 25 individuals, highlighting distinct autistic traits and sex-dependent penetrance.

Keywords:
CHD8OGIDautismmacrocephalyovergrowth

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Human Biology

Background:

  • Variants in the chromodomain helicase DNA-binding protein 8 (CHD8) gene are linked to intellectual disability (ID), autism spectrum disorders (ASDs), and overgrowth syndromes.
  • CHD8 is identified as a causative gene for overgrowth and ID (OGID).

Purpose of the Study:

  • To investigate the clinical features and genotype-phenotype correlations in individuals with CHD8 protein truncating variants (PTVs).
  • To characterize the spectrum of neurodevelopmental and physical manifestations associated with CHD8 haploinsufficiency.

Main Methods:

  • Clinical data collection and analysis from 25 individuals with CHD8 PTVs, including 10 new cases.
  • Phenotypic assessment including macrocephaly, tall stature, developmental delay, ID, ASDs, sleep, and gastrointestinal issues.

Main Results:

  • A male to female ratio of 2.7:1 was observed in the cohort.
  • Common features included macrocephaly (62.5%), tall stature (47%), developmental delay/ID (81%), ASDs (84%), sleep difficulties (50%), and gastrointestinal problems (40%).
  • Moderate-to-severe ID, speech regression, seizures, hypotonia, and non-ambulatory status were noted in a subset of individuals.

Conclusions:

  • Haploinsufficiency of CHD8 is associated with a distinct OGID syndrome characterized by significant autistic traits.
  • The study suggests a sex-dependent penetrance of CHD8 PTVs in humans.