@article {3477,
	title = {A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.},
	journal = {Gene},
	volume = {534},
	year = {2014},
	month = {2014 Jan 25},
	pages = {236-9},
	abstract = {<p>Hereditary hearing loss (HHL) is a common disorder accounting for at least 60\% of prelingual deafness. It is characterized by a large genetic heterogeneity, and despite the presence of a major gene, still there is a need to search for new causative mutations/genes. Very recently, a mutation within ATP-gated P2X(2) receptor (ligand-gated ion channel, purinergic receptor 2) gene (P2RX2) at DNFA41 locus has been reported leading to a bilateral and symmetrical sensorineural non-syndromic autosomal dominant HHL in two Chinese families. We performed a linkage analysis in a large Italian family with a dominant pattern of inheritance showing a significant 3.31 LOD score in a 2Mb region overlapping with the DNFA41 locus. Molecular analyses of P2RX2 identified a novel missense mutation (p.Gly353Arg) affecting a residue highly conserved across species. Visual inspection of the protein structure as obtained from comparative modeling suggests that substitution of the small glycine residue with a charged bulky residue such as an arginine that is close to the {\textquoteright}neck{\textquoteright} of the region responsible for ion channel gating should have a high energetic cost and should lead to a severely destabilization of the fold. The identification of a second most likely causative mutation in P2RX2 gene further supports the possible role of this gene in causing autosomal dominant HHL.</p>},
	keywords = {Amino Acid Sequence, Deafness, European Continental Ancestry Group, Female, Genotype, Hearing Loss, Sensorineural, Humans, Italy, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Receptors, Purinergic P2X2},
	issn = {1879-0038},
	doi = {10.1016/j.gene.2013.10.052},
	author = {Faletra, Flavio and Girotto, Giorgia and d{\textquoteright}Adamo, Adamo Pio and Vozzi, Diego and Morgan, Anna and Gasparini, Paolo}
}
