@article {7720,
	title = {Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.},
	journal = {Hum Mol Genet},
	volume = {24},
	year = {2015},
	month = {2015 Oct 1},
	pages = {5655-64},
	abstract = {<p>Hearing loss and individual differences in normal hearing both have a substantial genetic basis. Although many new genes contributing to deafness have been identified, very little is known about genes/variants modulating the normal range of hearing ability. To fill this gap, we performed a two-stage meta-analysis on hearing thresholds (tested at 0.25, 0.5, 1, 2, 4, 8 kHz) and on pure-tone averages (low-, medium- and high-frequency thresholds grouped) in several isolated populations from Italy and Central Asia (total N = 2636). Here, we detected two genome-wide significant loci close to PCDH20 and SLC28A3 (top hits: rs78043697, P = 4.71E-10 and rs7032430, P = 2.39E-09, respectively). For both loci, we sought replication in two independent cohorts: B58C from the UK (N = 5892) and FITSA from Finland (N = 270). Both loci were successfully replicated at a nominal level of significance (P < 0.05). In order to confirm our quantitative findings, we carried out RT-PCR and reported RNA-Seq data, which showed that both genes are expressed in mouse inner ear, especially in hair cells, further suggesting them as good candidates for modulatory genes in the auditory system. Sequencing data revealed no functional variants in the coding region of PCDH20 or SLC28A3, suggesting that variation in regulatory sequences may affect expression. Overall, these results contribute to a better understanding of the complex mechanisms underlying human hearing function.</p>},
	issn = {1460-2083},
	doi = {10.1093/hmg/ddv279},
	author = {Vuckovic, Dragana and Dawson, Sally and Scheffer, Deborah I and Rantanen, Taina and Morgan, Anna and Di Stazio, Mariateresa and Vozzi, Diego and Nutile, Teresa and Concas, Maria P and Biino, Ginevra and Nolan, Lisa and Bahl, Aileen and Loukola, Anu and Viljanen, Anne and Davis, Adrian and Ciullo, Marina and Corey, David P and Pirastu, Mario and Gasparini, Paolo and Girotto, Giorgia}
}
@article {8094,
	title = {PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.},
	journal = {Sci Rep},
	volume = {5},
	year = {2015},
	month = {2015},
	pages = {18568},
	abstract = {<p>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 mild-to-moderate HHL but also showing a variable eye phenotype (i.e. uveitis, optic neuropathy). This deletion led to a premature stop codon (p.T519X) with truncation of the last 12 amino acids. PSIP1 was recently described as a transcriptional co-activator regulated by miR-135b in vestibular hair cells of the mouse inner ear as well as a possible protector against photoreceptor degeneration. Here, we demonstrate that it is ubiquitously expressed in the mouse inner ear. The PSIP1 mutation is associated with a peculiar audiometric slope toward the high frequencies. These findings indicate that PSIP1 likely plays an important role in HHL.</p>},
	issn = {2045-2322},
	doi = {10.1038/srep18568},
	author = {Girotto, Giorgia and Scheffer, Deborah I and Morgan, Anna and Vozzi, Diego and Rubinato, Elisa and Di Stazio, Mariateresa and Muzzi, Enrico and Pensiero, Stefano and Giersch, Anne B and Corey, David P and Gasparini, Paolo}
}
