Gene: EYA1

Alternate names for this Gene: BOP|BOR|BOS1|OFC1

Gene Summary: This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q13.3

Description of this Gene: EYA transcriptional coactivator and phosphatase 1

Type of Gene: protein-coding

rs121909197 in EYA1 gene and BRANCHIOOTIC SYNDROME 1 PMID 10655545 2000 Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

rs1131691667 in EYA1 gene and Branchiootorenal Syndrome 1 PMID 18220287 2008 Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

PMID 10991693 2000 Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

PMID 21280147 2011 Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

PMID 10464653 1999 Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.

PMID 15146463 2004 Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

PMID 24489909 2014 BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.

PMID 9361030 1997 Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

PMID 28832562 2017 A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

PMID 11558900 2001 Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

PMID 10655545 2000 Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

PMID 19951260 2010 EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.

PMID 18177466 2008 Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.

PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

PMID 16691597 2006 Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.

PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

rs10957550 in EYA1 gene and Longevity PMID 24688116 2014 Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.

rs606231357 in EYA1 gene and Multicystic Dysplastic Kidney PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

rs4738141 in EYA1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs10101067 in EYA1 gene and Triglycerides measurement PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs606231357 in EYA1 gene and Vesico-Ureteral Reflux PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

rs10101067 in EYA1 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.