Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Branchio-Oto-Renale Dysplasie 1

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.

Klinischer Befund

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

Gliederung

Branchio-oto-renale Dysplasie
Branchio-Oto-Renale Dysplasie 1
EYA1
Branchio-Oto-Renale Dysplasie 2
SIX2
Townes-Brocks-Branchio-Oto-Renales Syndrome

Referenzen:

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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4.

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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5.

Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1.

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6.

Olavarrieta L et al. (2008) Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.

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7.

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 [^]
Update: 9. Mai 2019