A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

ABSTRACT:

Background

Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila "eye absent" gene on chromosome 8q13.3, is recognized as one of the most important genes associated with BOR syndrome.

Methods

The proposita in this study was a 5-year-old Chinese girl with hearing loss, bilateral otitis media with effusion, microtia, facial hypoplasia, palatoschisis, and bilateral branchial cleft fistulae. The girl's family members, except two who were deceased, agreed to undergo clinical examination. We collected blood samples from 10 family members, including six who were affected by the syndrome. Genomic DNA was extracted an

SUBMITTER: Wang YG 

PROVIDER: S-EPMC6081847 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature