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.
Branchio-oto-renale Dysplasie | ||||
Branchio-Oto-Renale Dysplasie 1 | ||||
EYA1 | ||||
Branchio-Oto-Renale Dysplasie 2 | ||||
SIX2 | ||||
Townes-Brocks-Branchio-Oto-Renales Syndrome | ||||
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. |
11. |
OMIM.ORG article Omim 113650 |