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.
Die Klinik aller Typen der Branchio-Oto-Renale Dysplasie ist ähnlich variabel. Sie wird in der übergeordneten Gruppe beschrieben.
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1. |
None (1969) Familial hearing loss associated with branchial fistulas. ![]() |
2. |
Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1. ![]() |
3. |
Rickard S et al. (2000) Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. ![]() |
4. |
Estefanía E et al. (2006) Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. ![]() |
5. |
Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1. ![]() |
6. |
Olavarrieta L et al. (2008) Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. ![]() |
7. |
Stoppa-Lyonnet D et al. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. ![]() |
8. |
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. ![]() |
9. |
Kumar S et al. (1998) Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. ![]() |
10. |
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. ![]() |
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OMIM.ORG article Omim 113650![]() |