EYA1 mutation in a newborn female presenting with cardiofacial syndrome

N. Shimasaki, K. Watanabe, M. Hara, K. Kosaki

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)


The combination of an asymmetric crying face and heart defect has been termed cardiofacial syndrome. This "syndrome" is etiologically heterogeneous and a subset of patients have 22q11.2 deletions. We present a female with Cayler's cardiofacial syndrome phenotype who had a frameshift mutation of the EYA1 gene. We conclude that EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome.

Original languageEnglish
Pages (from-to)411-413
Number of pages3
JournalPediatric Cardiology
Issue number4
Publication statusPublished - 2004 Jan 1


  • 22q deletion
  • Asymmetry
  • Cardiofacial syndrome
  • Depressor anguli oris
  • EYA1
  • Mutation analysis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine


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