EYA1 Gene

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Li, V. EYA1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5482 (accessed on 21 September 2026).

Li V. EYA1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5482. Accessed September 21, 2026.

Li, Vivi. "EYA1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5482 (accessed September 21, 2026).

Li, V. (2020, December 24). EYA1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5482

Li, Vivi. "EYA1 Gene." Encyclopedia. Web. 24 December, 2020.

EYA1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/eya1

EYA transcriptional coactivator and phosphatase 1

genes

References

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D,Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D,Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J,Petit C. A human homologue of the Drosophila eyes absent gene underliesbranchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997 Feb;15(2):157-64.
Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a humanhomologue of the Drosophila eyes absent gene (EYA1) detected in patients withcongenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. 2000Feb 12;9(3):363-6.
Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ.Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypicconsequences. Hum Mutat. 2004 Jun;23(6):582-9.
Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D,Salomon R, Antignac C, Heidet L. Mutation screening of the EYA1, SIX1, and SIX5genes in a large cohort of patients harboring branchio-oto-renal syndrome callsinto question the pathogenic role of SIX5 mutations. Hum Mutat. 2011Feb;32(2):183-90. doi: 10.1002/humu.21402.
Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ. Branchio-oto-renal syndrome (BOR):novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.Hum Mutat. 2008 Apr;29(4):537-44. doi: 10.1002/humu.20691.
Rayapureddi JP, Hegde RS. Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. FEBS Lett. 2006 Jul10;580(16):3853-9.
Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D,Yonath H, Hall S, Power P, Semina EV. Whole exome sequencing in dominant cataractidentifies a new causative factor, CRYBA2, and a variety of novel alleles inknown genes. Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0.
Smith RJH. Branchiootorenal Spectrum Disorder. 1999 Mar 19 [updated 2018 Sep6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, AmemiyaA, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1380/

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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