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CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

Elizabeth Goldmuntz1, Richard Bamford, Jayaprakash D Karkera

  • 1Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

American Journal of Human Genetics
|January 19, 2002
PubMed

Insights

CFC1 gene mutations are linked to congenital heart defects like transposition of the great arteries and double-outlet right ventricle. This discovery reveals a shared genetic cause between these conditions and heterotaxy syndrome.

Area of Science:

  • Genetics
  • Developmental Biology
  • Cardiology

Background:

  • Heterotaxy syndrome is associated with heterozygous CFC1 mutations and congenital cardiac malformations.
  • Malposition of the great arteries is a common cardiac defect in heterotaxy syndrome.

Purpose of the Study:

  • To investigate CFC1 mutations in patients with transposition of the great arteries (TGA) and double-outlet right ventricle (DORV) without laterality defects.
  • To determine if CFC1 mutations represent a shared genetic etiology for these cardiac malformations and heterotaxy syndrome.

Main Methods:

  • Genetic analysis of the CFC1 gene in 86 patients diagnosed with TGA or DORV.
  • Comparison of mutation findings with clinical phenotypes, focusing on the absence of laterality defects.

Main Results:

  • Two disease-related CFC1 mutations were identified in the studied patient cohort.
  • This study represents the first identification of an autosomal single-gene defect responsible for TGA and DORV.

Conclusions:

  • Some cases of TGA and DORV share a common genetic etiology with heterotaxy syndrome, linked to CFC1 mutations.
  • The molecular pathway involving CFC1 is crucial for normal and abnormal cardiovascular development.
  • CFC1 mutations can cause congenital heart defects even in the absence of laterality defects.

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