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.
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| 2. |
Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.
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| 3. |
Rickard S et al. (2000) Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
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Estefanía E et al. (2006) Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
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Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1.
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Stoppa-Lyonnet D et al. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.
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| 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.
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| 9. |
Kumar S et al. (1998) Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
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| 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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| 11. |
OMIM.ORG article Omim 113650
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