title: Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
abstract: Mutations of the EYA1 gene (8q13.3) are the most common known cause of the branchio-oto-renal dysplasia (BOR), an autosomal dominant disease that includes developmental defects of branchial arch structures, middle and/or inner ear and kidney. The distinction between BOR and other dysplasias, such as oto-facio-cervical syndrome (OFC), is challenged by frequent association of the former to other diverse malformations, and by variable expressivity even within the same family. OFC is characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR. Recent characterization of one OFC patient shed some light on the controversy over whether OFC and BOR are the same disease, and led to the hypothesis that OFC is caused by contiguous deletions of EYA1 and adjacent genes. By contrast, we show here that an OFC patient bears a single-nucleotide substitution in a splice site of EYA1. Our results indicate that not only major rearrangements, but also point mutations altering the EYA1 reading frame, can be found in patients with OFC syndrome.
authors.affiliation: Servicio de Inmunología, ENT Department, Hospital Universitario Puerta de Hierro, Universidad Autonoma de Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Estefanía
authors.forename: R
authors.initials: R
authors.lastname: Ramírez-Camacho
authors.forename: M
authors.initials: M
authors.lastname: Gomar
authors.forename: A
authors.initials: A
authors.lastname: Trinidad
authors.forename: B
authors.initials: B
authors.lastname: Arellano
authors.forename: J R
authors.initials: JR
authors.lastname: García-Berrocal
authors.forename: J M
authors.initials: JM
authors.lastname: Verdaguer
authors.forename: C
authors.initials: C
authors.lastname: Vilches
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001483:Base Sequence; D003937:Diagnosis, Differential; D019066:Facies; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D017422:Sequence Analysis, DNA; D012782:Shoulder / Q000002:abnormalities*; D013577:Syndrome
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D022821:RNA Splice Sites; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases