Klinik: 

Definition: Als BOR1-Syndrom wird ein autosomal dominantes Fehlbildungssyndrom bezeichnet. Die Entwicklungsstörungen können Ohr, Kiemenbögen und Nieren betreffen. Das verantwortliche bei dieser Erkrankung mutierte Gen ist EYA1.

Klinisches Bild: Die Klinik aller Typen der Branchio-Oto-Renale Dysplasie ist ähnlich variabel. Sie wird in der übergeordneten Gruppe beschrieben.  » » » 

Literatur: 

Orten DJ et al. (2008) Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Abdelhak S et al. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.
Rowley PT et al. (1969) Familial hearing loss associated with branchial fistulas.
Kumar S et al. (1998) Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
Rickard S et al. (2000) Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
Estefanía E et al. (2006) Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
Olavarrieta L et al. (2008) Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1.
Stoppa-Lyonnet D et al. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.