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

Pediatr Cardiol. 2004 Jul-Aug;25(4):411-3. doi: 10.1007/s00246-003-0271-3.

Authors

N Shimasaki¹, K Watanabe, M Hara, K Kosaki

Affiliation

¹ Department of Pediatrics, Shimizu City Hospital, Shimizu City, Japan.

PMID: 15493068
DOI: 10.1007/s00246-003-0271-3

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 22q111.2 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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Branchio-Oto-Renal Syndrome / genetics*
DNA Mutational Analysis
Diagnosis, Differential
Facial Asymmetry / congenital*
Facial Asymmetry / genetics*
Female
Heart Defects, Congenital / genetics*
Humans
Infant, Newborn
Intracellular Signaling Peptides and Proteins
Nuclear Proteins
Phenotype
Point Mutation / genetics*
Protein Tyrosine Phosphatases
Sequence Deletion / genetics
Trans-Activators / genetics*

Substances

Intracellular Signaling Peptides and Proteins
Nuclear Proteins
Trans-Activators
EYA1 protein, human
Protein Tyrosine Phosphatases