EYA1 mutation in a newborn female presenting with cardiofacial syndrome

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

doi:10.1007/s00246-003-0271-3

EYA1 mutation in a newborn female presenting with cardiofacial syndrome

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

Center for Medical Genetics

Research output: Contribution to journal › Article › peer-review

22 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 language	English
Pages (from-to)	411-413
Number of pages	3
Journal	Pediatric Cardiology
Volume	25
Issue number	4
DOIs	https://doi.org/10.1007/s00246-003-0271-3
Publication status	Published - 2004 Jan 1

Keywords

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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10.1007/s00246-003-0271-3

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AU - Kosaki, K.

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AB - 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.

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KW - Asymmetry

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KW - Depressor anguli oris

KW - EYA1

KW - Mutation analysis

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EYA1 mutation in a newborn female presenting with cardiofacial syndrome

Abstract

Keywords

ASJC Scopus subject areas

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