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:
Related Diseases:
References:
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None (1969) Familial hearing loss associated with branchial fistulas.
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Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.
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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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5. |
Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1.
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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
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11. |
OMIM.ORG article
Omim 601653
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12. |
Orphanet article
Orphanet ID 121651
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13. |
Wikipedia article
Wikipedia EN (EYA1)
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Update: Aug. 14, 2020