EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome
N Shimasaki, K Watanabe, M Hara, K Kosaki - Pediatric cardiology, 2004 - Springer
N Shimasaki, K Watanabe, M Hara, K Kosaki
Pediatric cardiology, 2004•SpringerThe 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.
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.
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.
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