Related Experiment Video

Updated: Dec 25, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations

Mingxing Tang1, Yajian Wang2, Yuanyuan Xu1

  • 1Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, 230029, PR China.

Journal of Human Genetics
|March 24, 2020
PubMed

Insights

This study identifies novel GNB5 gene variants in a Chinese infant with early-onset intellectual developmental disorder with cardiac arrhythmia syndrome (IDDCA). The findings expand the understanding of GNB5-related disorders.

Area of Science:

  • Genetics
  • Developmental Biology
  • Cardiology

Background:

  • Intellectual developmental disorder with cardiac arrhythmia syndrome (IDDCA) is a rare genetic disorder.
  • G protein subunit beta 5 (GNB5) gene variants have been implicated in neurological and cardiac conditions.

Observation:

  • A 6-month-old Chinese male infant presented with convulsions, paroxysmal cyanosis, neurodevelopmental delay, and severe cardiac arrhythmia.
  • Genetic analysis revealed compound heterozygous variants in the GNB5 gene: c.458G>A/p.Cys153Tyr (maternal inheritance) and c.1032C>A/p.Tyr344* (de novo, paternal origin).

Findings:

  • Structural modeling suggests both identified GNB5 mutations impact protein interactions.
  • This case expands the known genetic and phenotypic spectrum of GNB5-associated diseases.

Implications:

  • Highlights the importance of genetic testing in early-onset neurodevelopmental and cardiac disorders.
  • Provides insights into the molecular mechanisms underlying GNB5-related syndromes.
  • Contributes to a broader understanding of genetic variations in diverse populations.

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