Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Branchiootorenal dysplasia 1

BOR1 syndrome is an autosomal dominant disorder that variably involves developmental defects of ear, brachial arches, and kidney. The disease is caused by mutations in the gene EYA1.

Clinical Findings

The clinical presentation is similarily variable in all forms of branchiootorenal dysplasia, and it is describe in the superordinate concept.

Systematic

Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX2
Townes-Brocks branchiootorenal-like syndrome

References:

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: May 9, 2019