Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects

Susan W. Robinson, Cynthia D. Morris, Elizabeth Goldmuntz, Mark D. Reller, Melanie A. Jones, Robert D. Steiner, Cheryl L. Maslen

Research output: Contribution to journalArticlepeer-review

150 Scopus citations


Atrioventricular septal defects (AVSD) are common cardiovascular malformations, occurring in 3.5/10,000 births. Although frequently associated with trisomy 21, autosomal dominant AVSD has also been described. Recently we identified and characterized the cell adhesion molecule CRELD1 (previously known as "cirrin") as a candidate gene for the AVSD2 locus mapping to chromosome 3p25. Analysis of the CRELD1 gene from individuals with non-trisomy 21-associated AVSD identified heterozygous missense mutations in nearly 6% of this population, including mutations in isolated AVSD and AVSD associated with beterotaxy syndrome. CRELD1 is the first human gene to be implicated in the pathogenesis of isolated AVSD and AVSD in the context of heterotaxy, which provides an important step in unraveling the pathogenesis of AVSD.

Original languageEnglish (US)
Pages (from-to)1047-1052
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - Apr 1 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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