EYA1 mutation in a newborn female presenting with cardiofacial syndrome

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

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

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
Volume25
Issue number4
Publication statusPublished - 2004 Jul

Fingerprint

Newborn Infant
Mutation
Crying
Frameshift Mutation
Phenotype
Genes
Cayler cardiofacial syndrome

Keywords

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

ASJC Scopus subject areas

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

Cite this

EYA1 mutation in a newborn female presenting with cardiofacial syndrome. / Shimasaki, N.; Watanabe, K.; Hara, M.; Kosaki, Kenjiro.

In: Pediatric Cardiology, Vol. 25, No. 4, 07.2004, p. 411-413.

Research output: Contribution to journalArticle

Shimasaki, N, Watanabe, K, Hara, M & Kosaki, K 2004, 'EYA1 mutation in a newborn female presenting with cardiofacial syndrome', Pediatric Cardiology, vol. 25, no. 4, pp. 411-413.
Shimasaki, N. ; Watanabe, K. ; Hara, M. ; Kosaki, Kenjiro. / EYA1 mutation in a newborn female presenting with cardiofacial syndrome. In: Pediatric Cardiology. 2004 ; Vol. 25, No. 4. pp. 411-413.
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