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Ciliopathy variant burden and developmental delay in children with hypoplastic left heart syndrome

Gabrielle C Geddes1, Karl Stamm2, Michael Mitchell2

  • 1Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|October 28, 2016
PubMed

Insights

Children with hypoplastic left heart syndrome (HLHS) and developmental delay exhibit a significantly higher burden of ciliopathy gene variants. This finding suggests a potential genetic link between HLHS, developmental delay, and ciliopathies.

Area of Science:

  • Genetics
  • Developmental Biology
  • Cardiology

Background:

  • Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect.
  • Developmental delay can be associated with genetic disorders.
  • Ciliopathies are a group of genetic disorders affecting cilia function.

Purpose of the Study:

  • To investigate the association between ciliopathy gene variant burden and developmental delay in patients with HLHS.
  • To test if a higher summative C-score in ciliopathy genes correlates with developmental delay in HLHS patients.

Main Methods:

  • A summative C-score was calculated for 14 ciliopathy genes in 24 children with HLHS.
  • Mean summative C-scores were compared between children with and without developmental delay.
  • Randomized gene sets were used for scoring control.

Main Results:

  • Children with developmental delay had a mean summative C-score of 4.05 in ciliopathy genes.
  • Children without developmental delay had a mean summative C-score of 2.02.
  • The observed difference was statistically significant (P < 0.01).

Conclusions:

  • Summative C-scores in ciliopathy genes can assess phenotypic risk in genetically complex disorders.
  • Further replication may lead to a diagnostic panel for identifying developmental delay risk in infants with congenital heart disease.
Abstract

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