Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Eyes absent, drosophila homolog 1

The EYA1 gene encodes a protein that plays a role in the development of kidney, branchial arches, eye, and ear. Mutations cause autosomal dominant branchiootorenal dysplasia syndrome 1.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Branchiootorenal dysplasia 1
EYA1
Branchiootic syndrome 1
EYA1

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.

NCBI article

NCBI 2138 [^]
11.

OMIM.ORG article

Omim 601653 [^]
12.

Orphanet article

Orphanet ID 121651 [^]
13.

Wikipedia article

Wikipedia EN (EYA1) [^]
Update: April 29, 2019