title: EYA1 mutation in a newborn female presenting with 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 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.
authors.affiliation: Department of Pediatrics, Shimizu City Hospital, Shimizu City, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Shimasaki
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: M
authors.initials: M
authors.lastname: Hara
authors.forename: K
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005146:Facial Asymmetry / Q000151:congenital* / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases; D017384:Sequence Deletion / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases