Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders.

ABSTRACT: Congenital hearing loss is an important clinical problem because, without early intervention, affected children do not properly acquire language and consequently have difficulties developing social skills. Although most newborns in the US are screened for hearing deficits, even earlier diagnosis can be made with prenatal genetic screening. Genetic screening that identifies the relevant mutated gene can also warn about potential congenital defects in organs not related to hearing. We will discuss efforts to identify new candidate genes that underlie the Branchiootorenal spectrum disorders in which affected children have hearing deficits and are also at risk for kidney defects. Mutations in two genes, SIX1 and EYA1, have been identified in about half of the patients tested. To uncover new ca

SUBMITTER: Moody SA 

PROVIDER: S-EPMC4662879 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature