Article
PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.
Scientific reports - 22 Dec 2015
Girotto Giorgia, Scheffer Déborah I, Morgan Anna, Vozzi Diego, Rubinato Elisa, Di Stazio Mariateresa, Muzzi Enrico, Pensiero Stefano, Giersch Anne B, Corey David P, Gasparini Paolo
Abstract excerpt
Hereditary Hearing Loss (HHL) is an extremely heterogeneous disorder. Approximately 30 out of 80 known HHL genes are associated with autosomal dominant forms. Here, we identified PSIP1/LEDGF (isoform p75) as a novel strong candidate gene involved in dominant HHL. Using exome sequencing we found a frameshift deletion (c.1554_1555del leading to p.E518Dfs*2) in an Italian pedigree affected by sensorineural...
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